Received: 30 September 2021

Revised: 13 January 2023

Accepted: 21 January 2023

DOI: 10.1111/jar.13079

ORIGINAL ARTICLE

Published for the British Institute of Learning Disabilities

Educational challenges for 22q11.2 deletion syndromein Japan: Findings from a mixed methods survey
Miho Tanaka 1|

Akiko Kanehara 1

1|

Ryo Morishima 2,3

1|

Yousuke Kumakura 1,4

1,5

|

5

| Naomi Nakajima| Junko Hamada| Tomoko Ogawa|
Noriko Okouchi
6,7
8
1,3
5,9
Hidetaka Tamune| Mutsumi Nakahara| Seiichiro Jinde| Yukiko Kano|
Kiyoto Kasai 1,3,10
1

Department of Neuropsychiatry, The University of Tokyo Hospital, Tokyo, Japan

2

The Health Care Science Institute, Tokyo, Japan3

Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

4

Department of Mental Health, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

5

Department of Child Psychiatry, The University of Tokyo Hospital, Tokyo, Japan

6

Department of Cellular Neurobiology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

7

World-Leading Innovative Graduate Study Program for Life Science and Technology (WINGS-LST), The University of Tokyo, Tokyo, Japan

8

Graduate School of Clinical Psychology, Kagoshima University, Kagoshima, Japan

9

Department of Child Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

10

The International Research Center for Neurointelligence (WPI-IRCN) at The University of Tokyo Institutes for Advanced Study (UTIAS), The University of Tokyo,
Tokyo, Japan

Correspondence
Kiyoto Kasai, Department of Neuropsychiatry,
Graduate School of Medicine, The Universityof Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo
113-8655, Japan.
Email: kasaimd@gmail.com
Funding information
Japan Agency for Medical Research andDevelopment, Grant/Award Number:
20ek0109369; Japan Society for the
Promotion of Science, Grant/Award Numbers:
JP16H06395, JP16H06399, JP16K21720,
JP20H03596, JP21H00451; the International
Research Center for Neurointelligence (WPIIRCN) at The University of Tokyo Institutes for
Advanced Study (UTIAS); UTokyo Center for
Integrative Science of Human Behavior(CiSHuB); Moonshot R&D, Grant/Award
Number: JPMJMS2021

Abstract
Background: The 22q11.2 deletion syndrome (22q11DS) is characterised by a changing pattern of overlapping intellectual, physical, and mental disabilities along thecourse of one's life. However, the impact of overlapping disorders (multimorbidity) on
educational challenges remains unclear.
Method: A survey was conducted with 88 caregivers of individuals with 22q11DS. A
quantitative analysis of educational challenges and support needs divided into age
groups (7–12, 13–15, 16–18, and 19 years and over) and a qualitative analysis of thefree-text items in the questionnaire was conducted.
Results: Caregivers were more interested in comprehensive developmental support
when their children were younger, and the emphasis shifted to concerns regarding
environments that matched individual characteristics at older ages. Furthermore,when there are multiple disabilities or disorders, support is concentrated on the more
obvious disabilities, and the lack of support for the less superficially obvious disabilities associated with multiple difficulties, including mental health problems, can be achallenge for people with 22q11DS and their families.

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any
medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
© 2023 The Authors. Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.
558

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J Appl Res Intellect Disabil. 2023;36:558–570.

Published for the British Institute of Learning Disabilities

Conclusions: This study suggests a need for increased focus on multimorbidity andassociated disabilities in school education that are difficult to observe because of
their mildness or borderline levels if present alone.
KEYWORDS

22q11.2 deletion syndrome, educational challenges, multimorbidity, qualitative, quantitative,
questionnaire1|

B A CKG R O U N D

clear that phenotypes of cognitive development tend to change anddiverge with age (Swillen & McDonald-McGinn, 2015). In addition,

The 22q11.2 deletion syndrome (22q11DS) is caused by the microde-82 individuals with 22q11DS who developed psychotic symptoms

letion of chromosome 22, with an incidence rate of 1/2000 to 6000

had lower reading ability even before the emergence of symptoms(McDonald-McGinn, 2018). Many individuals have resulting physicaland continued to demonstrate difficulties with cognitive flexibility

conditions, such as congenital heart diseases, characteristic facial fea-

compared to those without psychosis (Antshel et al., 2017). This high-tures, and immunological problems. Individuals with 22q11DS often

lights the need for a focus on the relationship between cognitive abili-

co-develop neurodevelopmental comorbidities, including attention

ties and various co-developing symptoms.

deficit hyperactivity disorder (ADHD, 37.1%), autism spectrum disor-

Regarding psychobehavioral issues, examinations using the Childder (ASD, 12.8%), and intellectual disability (45.9%) (Schneider

Behaviour Checklist (CBCL) have revealed that internalising problems

et al., 2014; Swillen et al., 1997). Comorbid psychiatric disorders aretend to be particularly common among individuals with 22q11DS

also common, with anxiety disorders accounting for 35.6% in children(Klaassen et al., 2013; Wray et al., 2013). This suggests that individ-

and 33.9% in adolescents (Schneider et al., 2014). Schizophrenia,

uals with 22q11DS tend to have psychobehavioral issues that are

which typically occurs in adolescence, is estimated to occur in approx-

internalised rather than externalised, thus making it challenging toimately 20%–25% of individuals with 22q11DS (Fiksinski et al., 2021;

understand their difficulties at the surface level.

Qin et al., 2020; Schneider et al., 2014). It has been pointed out that

Affected individuals and their families face various educational chal-these neuropsychiatric comorbidities can result in learning and beha-lenges and support needs (Cohen et al., 2017) because the characteris-vioural challenges in school life for individuals with 22q11DS (Donnatics of symptoms and disabilities associated with 22q11DS differ greatly

Cutler-Landsman, 2020). Thus, individuals with 22q11DS experience

depending on the individual. However, the educational challenges andmultimorbidity (Niarchou et al., 2017), and even if each is present at a

support needs due to overlapping disorders and illnesses remain unclear.

mild or borderline level, their overlap is likely to cause a mismatch

One reason for this may be related to the state of special needs

with the existing social structure, including educational services that

education in Japan. In addition to individual support in regular class-are matched to the majority or those with a single disability.

rooms, special support education in elementary schools (generally for

Furthermore, the patterns of the co-presence of disorders attrib-

ages 7–12) and junior high schools (generally for ages 13–15) in Japanuted to 22q11DS change with the affected person's growth. In someincludes instruction in schools for special needs education, special clas-

individuals, congenital heart diseases or physical conditions, such as ases, and special support classrooms/resource rooms. Special support

cleft palate, may be alleviated through treatment or over time. In con-schools are divided into five disability categories: intellectual, physical,

trast, cognitive or mental difficulties may increase with age. Such

health, visual, and hearing disabilities. Special classes include those forcomorbidities may cause educational challenges and support needs

language disorders and autism/emotional disorders in addition to thethat change throughout different educational stages.

above five categories. Children with severe multiple disabilities attend

Previous studies on the educational challenges of 22q11DS haveclasses focused on multiple disabilities. Furthermore, children with

reported associated cognitive features. Cutler-Landsman (2020) sug-

intellectual disabilities are typically not included in the instructions pro-

gested that cognitive and behavioural problems in children withvided by special support classrooms/resource rooms. In addition to reg-

22q11DS, such as diminished attention and cognitive capacity, can poseular classes and special-needs schools, correspondence high schools

difficulties in school life. For example, children with 22q11DS find it diffi-

and night high schools are available as school options for high school

cult to engage in visuospatial processing (Attout et al., 2017; Niklasson &students (generally aged 16–18). Correspondence schooling is a type of

Gillberg, 2010) and exhibit weak arithmetic skills (Carvalho et al., 2014).

high school in which students study primarily at home and earn credits

Regarding cognitive issues, Tobia et al. (2018) examined educa-

through correctional instruction, schooling, and examinations.

tional attainment and verbal, non-verbal, and spatial abilities in 18 chil-

While this situation allows children to choose the school or classdren and adolescents with 22q11DS at two time points, 5 years apart.

according to their condition, it also creates a situation in which chil-This longitudinal study indicated that age-related decline in cognitive

dren are forced to choose the school or class they attend according tofunction may be the result of altered profiles of cognitive strengths

their primary disability as well as their intellectual and adaptive func-

and weaknesses in people with 22q11DS. Furthermore, it has becometions. Consequently, children with multiple albeit mild disabilities

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TANAKA ET AL.

TANAKA ET AL.
Published for the British Institute of Learning Disabilities

often struggle to choose schools and classes, and some do not receive

not be calculated. A paper-based questionnaire with the same content

the support and guidance they truly need.

as the web-based questionnaire was sent by mail upon request to the

In Japan, education for children with various special educational
needs is promoted according to the severity, overlap, and diversifica-

participants who found it difficult to answer the web questionnaire.
Of the 125 valid responses, four were paper-based.

tion of disabilities, and individual educational support and instruction

In the current study, demographic and clinical information (Part A,

plans are created, where necessary, for children and students enrolled#1 and #2), quantitative responses to questions about educationalin regular classes. However, in the case of children or students withchallenges (Part A, #3), and quantitative and qualitative responses to

22q11DS who display multimorbidity, it is difficult to discern theirquestions about educational attainment and required support in edu-

educational challenges and support needs and thereby provide sup-cational areas (Part B, #6) were used.

port or guidance tailored to these needs.
Therefore, in this study, we clarified the impact of overlapping
disorders, which is a characteristic of 22q11DS, on educational chal-

2.2

Participants|

lenges and support needs. In addition, it is necessary to note that the
support status of special needs education in Japan differs among ele-

Although valid responses were provided by 125 caregivers, we usedmentary, junior high, and high schools. Therefore, this study aimed to

the responses from 88 caregivers (81 of whom were mothers) caring

clarify the educational difficulties and support needs of four age

for children of elementary school age or older to focus on children

groups of children according to their respective school life stages.

who had or had received education in school (7 years old or older) for#1, #2, and #3 (Part A). There were 69 responses to #6 (Part B). Of
the 125 valid responses, 37 were excluded because they were care-

2|

METHODS

givers of preschoolers who had not yet experienced school education.
The responses were analysed to identify the respective educa-

2.1 |surveyDevelopment and implementation of thetional challenges in elementary school, middle school, high school, andbeyond by dividing the respondents according to the age groups ofthe children they were caring for (7–12 years old, N = 36; 13–A detailed description of the methodology for our web-based survey is

15 years old, N = 11; 16–18 years old, N = 12; 19 years or older,available from our previous studies (Morishima et al., 2021; Tamune

N = 29) (Tables 1 and 2). Caregivers of children aged ≥19 years

et al., 2020). Briefly, an anonymous online questionnaire survey con-responded retrospectively.

cerning the challenges and support needs related to medical care, educa-

This study was approved by the Ethics Committee of the Facultytion, and welfare services was developed based on previous literatureof Medicine, University of Tokyo (Approval No. 2018015NI). Partici-

and clinical guidance (e.g., Basset et al., 2011; Campbell et al., 2018;

pants expressed their consent to participate in the study by responding

Fung et al., 2015; Habel et al., 2014) with inputs from the parents caring

to the questionnaires. A prepaid card equivalent to 5000 yen (approxi-

for an individual with 22q11DS. The final version of the survey ques-

mately 45 USD) was provided to each respondent as a reward.

tionnaire was divided into two main parts (Part A and Part B), whichwere subdivided into 10 domains as follows (Table S1): (1) Demographics
of parents (Part A); (2) Demographics and lifetime diagnosis of comor-

2.3

Data analysis|

bidities in an individual with 22q11DS (Part A); (3) Parental psychologicaldistress and various challenges in medical, welfare, educational, andThis was a mixed methods study that included both quantitative andother areas (Part A); (4) Situation of notification of 22q11DS diagnosis,

qualitative analyses.

related impact, and required support in medical areas (Part B); (5) Information about disability certificates and required support in welfare areas(Part B); (6) Information about educational attainment and required sup-

2.3.1

|

Quantitative analysis

port in educational areas (Part B); (7) Problems related to transition (PartB); (8) Sibling issues (Part B); (9) Research needs (Part B); and (10) Positive

Quantitative data were collected using multiple-choice questions.

and negative changes in parents' lives (Part B). The items in Part A wereItems related to individuals' backgrounds included questions aboutmandatory, whereas those in Part B were optional.

age, gender, IQ (IQ results obtained by parents when diagnosing a dis-

The response period was from March 20 to November 8, 2019.

ability in a hospital or obtaining a certificate), co-existing illnesses, andThe web questionnaire was accessed through our research team's

type of school or class they were enrolled in (Tables 1 and 2). Respon-

web page (‘22q-pedia’; https://22q-pedia.net/). The survey was publi-

dents were instructed to respond with a ‘Yes/No’ response to each

cised to patients' families through e-mail and/or letters, with the help

item of the questionnaire to indicate the existence of each educa-of a Japanese 22q11DS family association (the 22 Heart Club) and thetional challenge or support need (Table 3). One-way analysis of vari-

Association for the Protection of Children with Heart Disease, along

ance (ANOVA) and descriptive statistics were analysed using SPSS

with other people involved in the medical care of 22q11DS. There-(version 25.0; IBM, Tokyo, Japan) for multiple-choice questions in thefore, the recruited population was unclear and the response rate could

survey. Statistical significance was set at p < .05.

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560

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TABLE 1

Demographics and school characteristics of individuals with 22q11.2 deletion syndrome (N = 88).

Demographic information

7–12 (N = 36)

SD or %

13–15 (N = 11)

Age (average years)
Gender (male/female)

9.3

1.8

13.7

0.6

17.3

0.7

16/20

male,
44.4

6/5

54.5

7/5

58.3

14/15

48.3

IQ score (average)*

68.9 (N = 27)

9.5

68.1 (N = 8)

19.3

66.6 (N = 9)

17.0

57.7
(N = 24)

17.3

10

27.7

-

-

-

-

-

-

4
Special support classroom/
resource rooms (speech andlanguage classes, etc.)

11.1

-

-

-

-

-

-

Special classes

15

41.7

-

-

-

-

-

-

Schools for special needs
education

4

11.1

-

-

-

-

-

-

No response/others

9

25.0

-

-

-

-

-

-

1

2.8

3

27.3

-

-

-

-

Special support classroom/
resource rooms (speech andlanguage classes, etc.)

-

2

18.2

-

-

-

-

Special classes

-

-

4

36.4

-

-

-

-

Schools for special needs
education

-

-

2

18.2

-

-

-

-

No response/others

-

-

2

18.2

-

-

-

-

SD or %

16–18 (N = 12)

SD or %

19– (N = 29) SD or %
22.6

4.4

Elementary school
Regular classes

Junior high school
Regular classes

High school
Full-time (all-day) high school

-

-

-

-

1

8.3

-

-

Correspondence high school

-

-

-

-

1

8.3

1

3.4

Part-time (evening) highschool

-

-

-

-

0

0.0

1

3.4

Schools for special needs
education

-

-

-

-

6

50.0

-

-

No response/others

-

-

-

-

3

25.0

-

-

-

-

-

-

-

-

2

6.9

School/employment
Technical school/university
Regular employment

-

-

-

-

-

-

2

6.9

Employment of the disabled

-

-

-

-

-

-

7

24

Community workshop

-

-

-

-

-

-

6

21

No response/others

-

-

-

-

-

-

10

34

*One-way ANOVA, F[3,64] = 2.64, p = 0.057.

2.3.2

|

Qualitative analysis

content and meaning. Next, the data were divided into categories,and each category was named. In addition, themes were identified

For free-text responses (N = 69) to the questions in the evaluationand names were defined among the different units. To ensure reli-

form, a theme analysis was conducted in three steps (Tables 4 andability, the code content was determined and reviewed for all ana-

5). The first question was related to educational challenges: ‘Pleaselyses through multiple discussions among the three researchers,

feel free to describe any difficulties you have encountered in using

including the first author. The first author (MT) was a licensed clini-schools or other educational institutions because of your child's

cal psychologist and held a Ph.D. Of the two non-primary authors

overlapping disorders or disability’. The second question was related

who conducted the analysis, one researcher (AK) was a Psychiatricto educational support needs: ‘Please feel free to describe what

Social Worker, and the other was a Ph.D., trained in qualitative

kind of support you think is necessary for individuals with 22q11DS

analysis. The other staff member (NN) was a licensed clinical psy-and their parents in schools and other educational institutions’. The

chologist and a Ph.D. In cases where opinions differed, repeated dis-first author independently coded all transcripts according to theircussions were held on all code contents to reach a consensus. We

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TABLE 2Comorbidities in individuals with 22q11.2 deletion syndrome (N = 88).

Physical disorders

7–12(N = 36)

(%)

13–15
(N = 11)

(%)

16–18
(N = 12)(%)

19–(N = 29)

(%)

36

100.0

11

100

12

100

29

100

Congenital heart disease

30

83.3

9

81.8

9

75

25

86.2

Immune system disorder

10

27.8

3

27.3

3

25

14

48.3

Endocrine disorder

12

33.3

5

45.5

5

41.7

15

51.7

Gastrointestinal disease

11

30.6

5

45.5

4

33.3

15

51.7

Otorhinolaryngology/maxillofacialdisease

31

86.1

8

72.7

6

50

26

89.7

Orthopaedic disease

10

27.8

8

72.7

6

50

14

48.3

Other physical disorders

9

25

1

9.1

1

12

41.4

34

94.4

10

90.9

12

100

28

96.6

Intellectual disability

28

77.8

8

72.7

10

83.3

24

82.8

Autism spectrum disorder

4

11.1

2

18.2

2

16.7

4

13.8

Growth/developmental disorders

8.3

Attention deficit hyperactivity disorder

3

8.3

1

9.1

2

16.7

2

6.9

Oppositional defiant disorder

1

2.8

0

0.0

0

0.0

0

0.0

Learning disability

9

25.0

2

18.2

2

16.7

8

27.6

Speech delay

23

63.9

4

36.4

7

58.3

15

51.7

Selective mutism

0

0.0

1

9.1

1

8.3

4

13.8

Delayed motor development

16

44.4

3

27.3

3

25.0

10

34.5

Growth disorder/short stature

11

30.6

3

27.3

2

16.7

10

34.5

Other growth/developmental disorders

3

8.3

1

9.1

0

0.0

1

3.4

6

16.7

1

9.1

4

33.3

21

72.4

0

0.0

0

0.0

0

0.0

8

27.6

Psychiatric/neurological disorders
Schizophrenia
Major depression

0

0.0

0

0.0

0

0.0

1

3.4

Bipolar disorder

0

0.0

0

0.0

0

0.0

2

6.9

Anxiety disorder

0

0.0

0

0.0

3

25.0

10

34.5

Panic disorder

0

0.0

0

0.0

0

0.0

2

6.9

Obsessive–compulsive disorder

0

0.0

0

0.0

1

8.3

3

10.3

Epilepsy

6

16.7

1

9.1

1

8.3

8

27.6

Other neuropsychiatric disorders

2

5.6

0

0.0

1

8.3

3

10.3

believe that these tasks resolved the risk ambiguity in interpretation

68.1 in the 13–15 years age group, and 57.7 in the 19 years and older

with the three researchers reaching a consensus. Finally, cross-agechecking and discussions were conducted by the research team,(F3,64 = 2.63, p = .057, one-way ANOVA; Tables 1).

group,

however,

there

were

no

significant

differences

which included experienced psychiatrists, psychologists, and mental

The 7–12 years age group comprised children in elementary

health workers. The research team agreed on the final coding

and middle schools, whereas children in the 13–15 years age group

framework, and we believe that discussions among the researchwere in regular classes, resource rooms, special classes, and schools

team minimised bias and ensured reliability. Microsoft Excel wasfor special needs education. In contrast, high school-level schoolingused to manage the qualitative data.

consisted of regular schooling, including correspondence schoolingand part-time evening schools or schools for special needs education (Table 1).

3

RESULTS|All individuals with 22q11DS tended to have some form of coexisting physical disorder. Across all age groups, more than 70% were

3.1

Quantitative data|

affected by congenital heart diseases, and more than 50% had coexisting otorhinolaryngology or craniofacial disorders (Table 2).

3.1.1

|

Background factors

Regardless of the age group, the co-existence of growth/developmental disorders was observed in more than 90% of individ-

The percentage of male patients in each group was approximately

uals. Intellectual disabilities were observed in more than 70% of all

50%. The average Full scale IQ was 68.9 in the 7–12 years age group,groups, and the next most common issue was linguistic difficulties

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TABLE 3

Responses to the questions of educational challenges and support needs.

Items related to educational challenges (N = 88)

7–12(N = 36)

(%)

13–15
(N = 11)

(%)

16–18
(N = 12)(%)

19–(N = 29)#1 Lack of information regarding school selection

9

25.0

#2 Lack of consultants or contacts regarding school
selection

7

19.4

1

9.1

1

8.3

1

3.4

2

18.2

0

0.0

3

10.3

#3 No educational institutions suitable for the individual's
characteristics/traits

12

33.3

3

27.3

1

8.3

3

10.3

#4 Lack of special classes/schools for special needs
education

7

19.4

2

18.2

0

0.0

0

0.0

#5 Lack of institutions for higher education suitable for theindividual could go to

5

13.9

4

36.4

2

16.7

4

13.8

#6 Lack of home/visiting educational services

1

2.8

0

0.0

1

8.3

2

6.9

#7 Regular classes teachers were unhelpful

5

13.9

0

0.0

1

8.3

0

0.0

#8 Special classes teachers were unhelpful

7

19.4

0

0.0

0

0.0

2

6.9

#9 Schools for special needs education teachers wereunhelpful

0

0.0

1

9.1

0

0.0

2

6.9

#10 Cannot keep up with schoolwork

16

44.4

0

0.0

2

16.7

4

13.8

#11 Difficulty with participating in events such as field days
and school festivals

3

8.3

2

18.2

0

0.0

3

10.3

#12 Difficulty making friends

8

22.2

2

18.2

1

8.3

8

27.6

#13 Refusal to attend school

3

8.3

0

0.0

2

16.7

3

10.3

(%)

#14 Being bullied

5

13.9

0

0.0

0

0.0

4

13.8

#15 How to spend time after school

9

25.0

3

27.3

5

41.7

1

3.4

#16 Participating in extracurricular lessons and activities

6

16.7

1

9.1

0

0.0

1

3.4

#17 Communicating with the home room teacher

7

19.4

0

0.0

2

16.7

4

13.8

#18 Homeroom teacher changed

5

13.9

0

0.0

1

8.3

0

0.0

#19 Lack of knowledge regarding 22q11.2 deletion
syndrome on the part of staff (faculty, etc.)

22

61.1

6

54.5

4

33.3

7

24.1

#20 Lack of understanding on the part of school staff(faculty, etc.) of the fact that children with 22q11.2
deletion syndrome may need more consideration thanchildren with ordinary physical or intellectual disabilities

14

38.9

6

54.5

3

25.0

8

27.6

#21 Cannot come to an agreement with the school
regarding educational policy for the individual with
22q11.2 deletion syndrome

5

13.9

0

0.0

0

0.0

4

13.8

#22 You (the parent or guardian) or your family's anxiety or
resistance to selecting a special classes or schools for
special needs education

10

27.8

0

0.0

0

0.0

0

0.0

#23 Anxiety or resistance that the individual feels regarding
selection of a special classes or schools for special needs
education

3

8.3

0

0.0

0

0.0

0

0.0

#24 Other

2

5.6

2

18.2

2

16.7

6

20.7

Items related to educational support needs (N = 69)

7–12(N = 29)

(%)

13–15
(N = 7)(%)

16–18(N = 9)(%)

19–(N = 24)(%)#1 Additional staff allocation system for daycare and kindergarten

9

31.0

3

42.9

1

11.1

2

8.3

#2 Hospital classroom

2

6.9

0

0.0

0

0.0

0

0.0

#3 Support from home room teacher

5

17.2

2

28.6

4

44.4

7

29.2

#4 Support from school nurse

4

13.8

2

28.6

3

33.3

5

20.8

#5 Psychological support from school counsellor

7

24.1

3

42.9

2

22.2

6

25.0

#6 Lifestyle support from a social worker

4

13.8

2

28.6

2

22.2

6

25.0

#7 Developmental support from special classes specialists or visiting
tutors

10

34.5

3

42.9

2

22.2

4

16.7

(Continues)

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563

TANAKA ET AL.

TANAKA ET AL.
Published for the British Institute of Learning Disabilities

TABLE 3

(Continued)

Items related to educational support needs (N = 69)

7–12(N = 29)

(%)

13–15
(N = 7)(%)

16–18(N = 9)(%)

19–(N = 24)(%)#8 Environmental considerations for hyperacusis

4

13.8

1

14.3

2

22.2

5

20.8

#9 Consideration for restrictions on physical activity

3

10.3

2

28.6

3

33.3

3

12.5

#10 Support for refusal to attend school

3

10.3

0

0.0

2

22.2

9

37.5

#11 Measures to address bullying and support

0

0.0

1

14.3

2

22.2

8

33.3

#12 Career and educational counselling

4

13.8

3

42.9

2

22.2

10

41.7

#13 Other

2

6.9

2

28.6

1

11.1

3

12.5

(Table 2). Neuropsychiatric disorders co-existed in 33.3% of the 16-

3.2

Qualitative data|

to 18-year-old age group, but this percentage increased dramaticallyto 72.4% in the 19-year-or-older group (Table 2).

3.2.1

|

Educational challenges

In this study, respondents were asked to freely describe the educa-

3.1.2

|

Educational challenges at each age grouptional challenges children face because of overlapping disorders anddisabilities. We extracted 38 labels from the responses analysed.

The most prevalent challenge in the 7–12 age group was ‘#19: Lack

Using the extracted labels, we established Category 1 consisting ofof knowledge regarding 22q11DS on the part of the school staff (fac-eight subcategories (a–h), Category 2 consisting of four subcategories

ulty, etc.)’ at 61.1%, followed by ‘#10: Cannot keep up with school-(a–d), and Category 3 consisting of one subcategory (a) (Table 4).

work’ at 44.4%, and ‘#20: Lack of understanding on the part of the

To summarise, in Category 1, ‘Educational challenges due to over-school staff (faculty, etc.) of the fact that children with 22q11DS maylapping disorders/disabilities’, were identified, such as the focus ofneed more consideration than children with ordinary physical or intel-

support and guidance only on the more obvious disabilities, evenlectual disabilities’ at 38.9% (Table 3).

when there are multiple disabilities or overlapping disorders. Difficul-

In the 13–15 age group, both #19 and #20 were the highest atties such as not being able to receive the necessary support because

54.5%, followed by ‘#5: Lack of institutions for higher education thatof mild or borderline disabilities were also identified. In Category

the individual could attend’ at 36.4%.

2, ‘Difficulties related to support and guidance’, were identified withIn the 16–18 age group, ‘#15: What to do after school’ was thehighest (41.7%), followed by #19 (33.3%), and #20 (25.0%).
In the 19 years and older age group, ‘#16: Difficulty making

a lack of consideration for learning, as well as physical and mental
health at school. In Category 3, ‘Lack of understanding about the disability’, was identified with teachers' lack of understanding of multiple

friends’ and #20 were high, at 27.6%, followed by #19 at 24.1%.

disabilities.

3.1.3

3.2.2

|

Educational support needs in each age group|

Educational support needs

Respondents were asked to answer ‘Yes/No’ to each question to indi-

In this study, we asked the respondents to freely describe their sup-cate whether each support need existed (Table 3).

port needs when receiving education. We extracted 78 labels fromIn the 7–12 age group, ‘#7: Developmental support from special

the responses analysed. Using the extracted labels, we establishededucation classroom specialists or visiting tutors’ was highest at

Category 1 consisting of six subcategories (a–f), Category 2 consisting

34.5%, followed by ‘#1: Additional staff allocation system for daycareof six subcategories (a–f), and Category 3 consisting of five subcate-and kindergarten’ at 31.0%.

gories (a–e) (Table 5).

In the 13–15 age group, ‘#1 and #5: Psychological support fromTo summarise, in Category 1, ‘Needs for support and guidance

the school counselor’, ‘#7 and #12: Career and educational counsel-

that considers multiple disabilities’, we identified requests for individ-

ing’ were the highest at 42.9%.

ual consideration of complications that vary from child to child and for

In the 16–18 age group, ‘#3: Support from homeroom teacher’

understanding the borderline nature of disabilities. In Category 2:

was highest at 44.4%, followed by ‘#4: Support from school nurse’‘Support and guidance needs’, there were requests for support forand ‘#9: Considerations for restrictions on physical activity’ at 33.3%.

children's mental health and learning difficulties. In Category 3, ‘Needs

In the group of individuals aged 19 years and older, ‘#12: Careerfor understanding the disability’, there were requests for understand-and educational counseling’ was highest at 41.7%, followed by ‘#10:

ing the disability and disorder itself, and for cooperation between

Support for refusal to attend school’ at 37.5%.

schools, families, and other professionals.

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564

Published for the British Institute of Learning Disabilities

TABLE 4

Qualitative analysis of free-text responses to the questions regarding educational challenges.

Category

Excerpt from narrative

1. Educational challenges due to overlapping disorders/disabilities
Difficulty in adapting to the typical model of education for theintellectually disabled due to the combination of intellectual andphysical difficulties/extreme anxiety (education based on training
style lacks consideration for the mental aspects associated with themultimorbidity, making adaptation difficult)

If there were overlapping intellectual/physical disabilities andhypersensitivity, the special classes for intellectual disability did not leadto mental and physical relief.
Due to his/her vulnerability to stress, my child closed his/her mind andwas unable to keep up with children in special classes who had a lot ofenergy.
The teacher cannot understand the distress of the student's inability tokeep up with the pace of those around him/her.

Difficulty in getting teachers to understand intellectual disabilities
that are difficult to see due to the coexistence of physical andintellectual problems

My child has a heart disease and an intellectual disability, so I struggled tofigure out how to make the kids in the class understand each one, andin the end, I could only talk about the heart.
There was consideration for heart diseases that are easy to see, but notfor difficulties of mild intellectual disabilities and extreme anxiety.

Lack of consideration for other disability categories due to the choiceof schools and classes that emphasise one of the overlapping
disorders

Support for intellectual disabilities was provided in the special class, butthere were difficulties in obtaining consideration for speaking andhearing difficulties.
Since he/she had both intellectual and mental disabilities, he/sherequested to use the special support classroom for mental disabilities
but was told that it was not suitable for him/her if he/she had
intellectual disabilities.

Difficulties associated with the borderline nature of physical andintellectual disability levels

Although my child has overlapping disorders, both physical andintellectual, his/her borderline disabilities make teachers think thathe/she could do more.

Difficulties with the fact that classes for children with multiple
disabilities may not be able to accommodate them due to their mild
disabilities

I was told that if he/she had multiple disabilities, he/she should go to a
special class for multiple disabilities, but I was perplexed because
everyone in that class was in a wheelchair, and he/she had no problem
walking.

Complaints about teachers' attitude

There was no willingness on the part of the teachers to learn about
22q11.2 deletion syndrome.
The more I explained the symptoms, the more confused the teacher
became.

Parental conflict

I did not tell the teacher everything because I believed in his/her potential
for growth.

Appreciation for flexible and personalised support

He/she could not be placed in a group because of his/her selective
mutism, but teachers provided him/her with a different curriculum withindividualised instruction, which helped.
When my child had psychosomatic symptoms and stopped attending
school, there was no counsellor available at first, but they dispatched
one on short notice.

2. Difficulties related to support and guidance
An environment that makes it difficult for the student to feelemotionally secure in school

He/she complained of physical symptoms and had trouble attending
school, but there was no support from the school.
The change in environment caused psychological symptoms (obsessive–
compulsive disorder, hair pulling, selective mutism, etc.) and prevented
him/her from joining the group.

Lack of teachers who can provide specialised and individualised
services

The educational system could not provide guidance from specialisedteachers for speech and hearing disorders.
He/she applied for regular classes but was told that he/she would have to
be chaperoned.

Lack of medical and physical consideration

I would like to see consideration given to injuries and bleeding.

Lack of learning support

It was difficult to find an environment where he/she could get support for
his/her learning, and he/she had to study on his/her own a lot, so it was
hard to learn.

(Continues)

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565

TANAKA ET AL.

TANAKA ET AL.
Published for the British Institute of Learning Disabilities

TABLE 4

(Continued)

Category

Excerpt from narrative

3. Lack of understanding about disability
Lack of understanding of the characteristics of illness and multiple
disabilities in children with 22q11.2 deletion syndrome by school
officials

4|

DISCUSSION

In the regular class, there was no understanding of intellectual disabilities
and the disorder.
There is a lack of understanding and appropriate approach from teachers
about multiple disabilities.

disability individuals with 22q11DS have to adequately consider theeducational needs and challenges they face at school.

This mixed methods study that included both quantitative and qualita-

For 16- to 18-year-old, there is a strong need for support fromtive analyses indicated that caregivers' attention tends to be focused

homeroom teachers and school nurses, as well as support needs thaton the adaptation of individuals with 22q11DS to the school environ-consider restrictions in physical activity. One of the challenges inment, along with providing developmental support for neurodevelop-

Japanese high school education is the fragility of the support system.

mental difficulties at younger ages. However, as individuals with

Compared to elementary and junior high schools, Japanese high

22q11DS get older, the emphasis of caregivers shifts toward seeking

schools provide insufficient educational plans and services to meetan environment that fits their characteristics associated with multi-

individual support as well as insufficient transition support from juniormorbidity and multiple disabilities. We were able to clarify that even ifhigh school (Tabe, 2011). In Japan, students with various disorders/each disorder was mild or borderline, their overlap created challenges

disabilities and their families often choose schools for special needs

and support needs that were difficult to observe, such as anxiety, sus-

education or correspondence high schools when they consider enter-ceptibility to fatigue, and borderline illnesses. To our knowledge, thising high school. However, many full-time teachers and correspon-is the first large scale investigation to reveal difficulties and support

dence high schools lack an understanding of students with special

needs in school education for children with 22q11DS, with special

support needs. This situation can be a serious detriment to education

attention paid to the mismatch between the school system and indi-

for children and families who may have multiple disabilities and disor-

viduals' multimorbidity and associated disabilities.

ders, such as individuals with 22q11DS. The caregivers of individuals
with 22q11DS aged 19 or over, whose responses were retrospective,
had a high need for career counselling and had difficulty finding

4.1 | Difference by age group in educational
challenges and support needs (quantitative analysis)

employment and choosing a school. Previous studies have indicatedthe importance of daily life skills in individuals with 22q11DS as theiradaptive function has been established to affect their employment

For families of individuals with 22q11DS, even mild or borderline

status (Butcher et al., 2012; Mosheva et al., 2019). For families thatsymptoms of the disability or disorder can lead to educational chal-include individuals with 22q11DS, even after the child has success-lenges because of their overlap. In this study, we elucidated the edu-

fully graduated from school, the transition to employment can pose

cational challenges and support needs of individuals with 22q11DS in

an issue.

each age group, as well as the challenges and support needs that arise
due to overlapping disorders and disabilities (Table 3).

This suggests that for individuals with 22q11DS, emphasis isplaced right from a young age on adapting to the environment, such

The results of the quantitative analysis indicated that caregivers

as the school site, with a need for developmental support regardingof children with 22q11DS felt that there was a lack of understanding

neurodevelopmental difficulties. However, in older age groups, theand knowledge regarding 22q11DS among the school staff for all age

emphasis may be on finding an environment that better fits the child'sgroups. Previous studies have also highlighted this issue (Cohen

personality and characteristics.

et al., 2017; Lee et al., 2005; Reilly, 2012; Reilly, Murtagh, &Senior, 2015; Reilly, Senior, & Murtagh, 2015). Caregivers of individuals with 22q11DS aged 7–12 years were more likely to consider
their children's academic delays as educational difficulties, and they

4.2 | Educational challenges and support needs(qualitative analysis)

had a great need for developmental support and allocation of additional staff. For 13- to 15-year-old, the level of support needed wasBased on the open-ended responses provided by families, weabout the same for all choices; thus, we believe that this is a time

extracted the challenges and support needs in an educational environ-when various individual characteristics and environmental consider-ment that could not be obtained through multiple-choice responses.

ations are intermixed. In particular, the high proportion of develop-

The results of this survey revealed that support tends to be biased

mental disorders, such as ADHD and ASD, at a young age (Fiksinski

toward one disability when disabilities and disorders overlap and thatet al., 2018; Kates et al., 2019) suggests that neurodevelopmental dif-

there is a lack of consideration when the degree of severity of eachficulties affect learning. It is necessary to know what disorder anddisorder is mild or borderline, despite it being difficult for the patient.

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566

Published for the British Institute of Learning Disabilities

TABLE 5

Qualitative analysis of free-text responses to the questions regarding educational support needs.

Category

Excerpt from narrative

1. Needs for support and guidance that considers multiple disabilities
Support that considers the individuality of each child in dealing withvarious complications that vary from person to person, and hopefor an education that values the individuality of each child

I would like teachers to search for the best solution for the child in frontof them, not based on their past experiences.

In addition to the consideration of intellectual disabilities, there arealso support needs for comorbid physical illness, extreme anxiety,hypersensitivity, etc.

There was support for the intellectual side, but I would like to see more
understanding of the lack of physical strength and tardiness due toheart and internal disorders.

Consideration for the borderline nature of physical and intellectual
disability levels

I want teachers to understand the characteristics of 22q11.2 deletion
syndrome, such as his sensitivity and borderline disability.

There are many differences between individuals, so I would like them toprovide support that suits each individual.

I would like teachers to understand that although he/she sometimes
seems to be able to do everything, he gets tired easily and is mentallysensitive.
I want teachers to treat him/her like any other child, but I do not wantthem to force him/her to do things because there are many things shecannot do.
Hope regarding the attitude of teachers so that they can face thechildren

I want teachers to learn more about the disability and think about it withus.
I would like the whole school to understand that it is necessary to havepeople who can move according to their physical condition and to haveflexibility in the classroom.

Hope that parents' conflicts will be taken into consideration

Please do not use words that encourage the separation of parents andchildren.

Appreciation for teachers' individualised and flexible approach

It was reassuring to know that when I handed the pamphlet of the family
association to the teacher, she tried to understand it.

2. Support and guidance needs
An environment where children with mental and sensory sensitivities,
and communication difficulties can feel mentally secure and canspend time at their own pace and physical condition

I would like teachers to pay more attention to his/her sensitive senses(smells, sounds, etc.) and communication with his friends (he/she is notgood at communication or behaving in a group).
I would like to see an environment where the guidance is given warmly
and unobtrusively, and at the student's own pace, rather than
enthusiastically.
I would like the school to provide mental support for my child, taking into
consideration his or her physical and mental condition.

Availability of teachers and support staff who can provide
professional and individualised support

It would be good if there were supporters with specialised knowledge.

Academic guidance and support

Even if they sit quietly in class, they often do not understand the content,
so I would like to see some support such as adding explanations.

I'd like the school to provide a place where my child can stay individuallywith a teacher.

I would like the school to have support for education and classes.
Support on how to relate to and explain things to friends

I would like teachers to explain my child's strengths and weaknesses in aneasy-to-understand manner to his/her friends in the same grade.
I would like to have outside support and guidance on how to interact withother students.

Support for promoting the sharing of information about children with
22q11.2 deletion syndrome

I would like to see posters at school that say, Do you have this kind ofdisorder?
I would like to see something to share information about the lifestyles ofother children with the same disorders/disabilities, and about going on
to higher education and employment.

Desired education system(Because it was not possible in some areas) I would like to have the option
to return to regular classes from special classes.
I would like to see resource rooms placed in each school.

(Continues)

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567

TANAKA ET AL.

TANAKA ET AL.
Published for the British Institute of Learning Disabilities

TABLE 5(Continued)

Category

Excerpt from narrative

3. Needs for understanding the disability
Understanding of the characteristics of multiple disabilities anddisorders

I want you to understand disabilities and disorders.

Cooperation with families

I want you to share information closely with parents.

I want you to learn more about this disability.

I would like to see an exchange of information between homeroom
teachers and parents.
Cooperation between medical care, schools, and education

I would like to see the medical field reach out to educational institutions.
Parents should be able to know what they should explain to the school.

Cooperation to connect the community and society such as
education, medical care, welfare, and family

I would like to see a consistent approach to therapy and education, withdetailed coordination on how the child is doing at home.
There were many things that were difficult to explain, so I would like tohave people who can connect schools, families, hospitals, and society.

Cooperation regarding consultation and support for parents

Parents are desperately trying to cope with the difficulties their children
are facing, but the mental and physical burdens are great, and I would
like to see multifaceted support such as hospital visits, referrals tocounsellors, and advice on transferring to another school, so that they
do not have to experience alone.

For example, children with mild intellectual disability and borderline

individuals with 22q11DS wanted that their children's schools con-intelligence (IQ50-85) face challenges such as not fitting in at special

sider them at their own pace, such as ‘Understanding that althoughsupport schools and regular classes (Bouck, 2014), which leads tohe/she sometimes seems to be able to do everything, he/she getsproblems with cognitive and adaptive skills (APA, 2013), as well as

tired easily and is mentally sensitive’ and ‘An environment where themental health challenges, and a high risk of developing mental illness

guidance is given warmly and unobtrusively, and at the student's own(Kok et al., 2016; Koslowski et al., 2016) (Tables 4 and 5).

pace’. Teachers in schools need to understand and be aware that indi-

The results suggest that caregivers want schools to consider thefact that a child with high levels of anxiety and irritability, susceptibil-

viduals with 22q11DS may face challenges that may not be apparent
on the surface.

ity to fatigue, internal disorders, and borderline illnesses is difficult to

Although caregivers feel there is a need to consider educational

understand through external observation alone. It is extremely impor-challenges, it is difficult for them to propose concrete countermea-

tant that individuals with 22q11DS are provided psychological sup-sures that schools should take. We believe this is represented by theport, given the fact that they tend to have a high level of anxiety

comments in which they expressed that educators should think along-

regardless of age group and have a high risk of developing mental ill-side parents, with the desire to support staff with specialised knowl-

nesses in adolescence (Fiksinski et al., 2018; Kates et al., 2019). In

edge, because the extent and details of symptoms and disorders varyfact, this study revealed that caregivers tended to be particularly con-

between individuals. Although the families concerned have many sup-cerned about their children's vulnerability to stress. In younger indi-

port needs, it is unclear how many educators can realise that support.

viduals with 22q11DS, studies using MRI brain structure analysis

As this study was able to demonstrate that family members have a

indicated a decrease in pituitary volume (Armando et al., 2018) involv-

high need for collaboration between education and medical care or

ing reduced stress tolerance and vulnerability to psychiatric comorbid-

welfare, we must aim to visualise their individual needs and provide

ities found in daily life (Sandini et al., 2020). It is suggested that thecomprehensive support through collaborations between supporters

freely written responses by caregivers, such as ‘vulnerability to stress’

involved in the child's life, such as school staff, regional administrativeand ‘sensitivity’, may stem from the fact that these biological factors

personnel, and medical care practitioners, rather than between par-of 22q11DS affect their mental difficulties. Previous studies have also

ents alone.

pointed out that adults with 22q11DS have severe fatigue, which is
associated with psychiatric vulnerabilities (Vergaelen et al., 2017).
However, teachers in school may not understand the challenges that

4.3|

Limitations

children with 22q11DS face that are less apparent on the surface,such as low-stress tolerance, high anxiety, and fatigue. The mostFirst, there is an issue with the representativeness of the target partic-

important aspect of this study is that the wide variety of overlapping

ipants. Information for the survey was disseminated through family

disorders and disabilities duals with 22q11DS and the lack of under-

associations and websites, and subjects with a variety of demographic

standing of the challenges that are not apparent on the surface may

and clinical characteristics were obtained from all of Japan. However,be educational challenges for individuals with 22q11DS and their fam-as the author's group is the only one in Japan that operates a specia-

ilies. In fact, the results of this study revealed that the caregivers oflised psychiatric outpatient clinic for 22q11DS, it is possible that

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568

Published for the British Institute of Learning Disabilities

caregivers of individuals with greater difficulties and needs than those

FUNDING INF ORMATI ON

in Japan participated in the study. However, it can be argued that thisThis study was supported by AMED under Grant Numbers

made it possible to highlight the invisible needs of the syndrome. Sec-

20ek0109369, by JSPS KAKENHI Grant Number JP20H03596,

ond, it is unclear whether the study revealed difficulties and needs

JP21H05171 and JP21H05174, Moonshot R&D Grant Number

specific to this syndrome as it did not use other chromosomally

JPMJMS2021, and by UTokyo Institute for Diversity and Adaptationinduced syndromes as controls. However, it can be said that we wereof Human Mind (UTIDAHM), and the International Research Center

able to outline the educational challenges of a syndrome in which thefor Neurointelligence (WPI-IRCN) at The University of Tokyo Insti-

overlap between physical, intellectual, and mental health changes

tutes for Advanced Study (UTIAS).

dynamically with each stage of life. Third, the results may reflect thepeculiarities of the Japanese school education system, and may not be

CONFLIC T OF INTER E ST STATEMENT

generalizable to an international situation. However, the results may

None of the authors have any conflict of interest to disclose.

provide suggestions for a society and education system that includes
syndromes with disabilities that are difficult to observe, such as

DATA AVAILABILITY STAT EMEN T

22q11DS. Fourth, the questionnaires were administered to family

The data that support the findings of this study may be available upon

members, and the answers were primarily provided by mothers. Con-

request after the approval of the ethical committee of the University

ducting questionnaire surveys on a large-scale is difficult because ofof Tokyo. The data are not publicly available due to privacy or ethicalintellectual limitations and high levels of anxiety and tension in inter-

restrictions.

personal situations. However, it is important to capture the subjective
challenges and needs that are difficult to express in words. For exam-

OR CIDple, we may be able to conduct surveys with visual indicators

Miho Tanaka

https://orcid.org/0000-0001-9041-3535(e.g., illustrations and photographs) by supporting staff with personnel
whom individuals with 22q11DS trust. This viewpoint should be con-

RE FE RE NCE S

sidered in future studies. Finally, there were limited questions on theAmerican Psychiatric Association (2013). Diagnostic and statistical manualof mental disorders (5th ed.). Washington, DC: American Psychiatric
Association.
Antshel, K. M., Fremont, W., Ramanathan, S., & Kates, W. R. (2017). Predicting cognition and psychosis in young adults with 22q11.2 deletion
syndrome. Schizophrenia Bulletin, 43, 833–842.
Armando, M., Sandini, C., Chambaz, M., Schaer, M., Schneider, M., &Eliez, S. (2018). Coping strategies mediate the effect of stressful life
events on schizotypal traits and psychotic symptoms in 22q11.2 deletion syndrome. Schizophrenia Bulletin, 44, S525–S535.
Attout, L., Noël, M. P., Vossius, L., & Rousselle, L. (2017). Evidence of the
impact of visuo-spatial processing on magnitude representation in
22q11.2 microdeletion syndrome. Neuropsychologia, 99, 296–305.
Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C.,
Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N.,
Sullivan, K., Swillen, A., Vorstman, J., & International 22q11.2 Deletion
Syndrome Consortium. International 22q11.2 Deletion Syndrome Consortium. (2011). Practical guidelines for managing patients with 22q11.2
deletion syndrome. The Journal of Pediatrics, 159, 332–339.e1.
Bouck, E. C. (2014). The postschool outcomes of students with mild intellectual disability: Does it get better with time? Journal of Intellectual
Disability Research, 58, 534–548.
Butcher, N. J., Chow, E. W., Costain, G., Karas, D., Ho, A., & Bassett, A. S.
(2012). Functional outcomes of adults with 22q11.2 deletion syndrome. Genetics in Medicine, 14, 836–843.
Campbell, I. M., Sheppard, S. E., Crowley, T. B., McGinn, D. E., Bailey, A.,
McGinn, M. J., Unolt, M., Homans, J. F., Chen, E. Y., Salmons, H. I.,
Gaynor, J. W., Goldmuntz, E., Jackson, O. A., Katz, L. E.,
Mascarenhas, M. R., Deeney, V. F. X., Castelein, R. M., Zur, K. B., Elden, L.,… McDonald-McGinn, D. M. (2018). What is new with 22q? An updatefrom the 22q and you Center at the Children's Hospital of Philadelphia.
American Journal of Medical Genetics, Part A, 176, 2058–2069.
Carvalho, M. R., Vianna, G., Oliveira, L. e. F., Costa, A. J., PinheiroChagas, P., & Sturzenecker, R. (2014). Are 22q11.2 distal deletions
associated with math difficulties? American Journal of Medical Genetics,
Part A, 164A, 2256–2262.
Cohen, W., McCartney, E., & Crampin, L. (2017). 22q11 deletion syndrome: Parents' and children's experiences of educational andeducational difficulties and support needs of the caregivers of individuals with 22q11DS. Consequently, some details regarding difficulties
in schools have not yet been clarified. However, this survey allowed
us to gain an overview of the difficulties and support needs of individuals with 22q11DS and their families. We believe that this has helped
us consider the nature of future support in school education.

5|

C O N CL U S I O NThis mixed analysis of quantitative and qualitative data from 88 caregivers of individuals with 22q11DS suggested that for the school education of children with 22q11DS, more focus is required on
multimorbidity and associated disabilities that are difficult to observe
because of their mild or borderline levels if present alone. We hopethat this study will contribute to the well-being of individuals with
22q11DS by providing an insight into the most important learning
opportunities in the early stages of their lives, such as educational settings during childhood and adolescence, and that it will ultimately help
guarantee their rights to education and social inclusion.
ACKNOWLEDGEMEN TS
We sincerely thank the participants for responding to the questionnaire, and the executive members of 22 HEART CLUB and the Association for the Protection of Children with Heart Disease forannouncing this questionnaire to their members. We also thank thehealth-care and research professionals for their announcement. We
thank Drs. Shuntaro Ando, Masato Fukuda, Kayo Ichihashi, Yuki Miyamoto, and Sosei Yamaguchi for their helpful comments on improving
the questionnaire.

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TANAKA ET AL.

TANAKA ET AL.
Published for the British Institute of Learning Disabilities

healthcare provision in the United Kingdom. Journal of Child HealthCare, 21, 142–152.
Cutler-Landsman, D. (2020). Educating children with velo-cardio-facial syndrome, 22q11.2 deletion syndrome, and DiGeorge syndrome (3rd ed.).
Plural Publishing Inc.
Fiksinski, A. M., Schneider, M., Murphy, C. M., Armando, M., Vicari, S., &Canyelles, J. M. (2018). Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome. American Journal of Medical
Genetics, Part A, 176, 2182–2191.
Fiksinski, A. M., Schneider, M., Zinkstok, J., Baribeau, D., Chawner, S. J.
R. A., & Vorstman, J. A. S. (2021). Neurodevelopmental trajectories
and psychiatric morbidity: Lessons learned from the 22q11.2 deletion
syndrome. Current Psychiatry Reports, 23, 13.
Fung, W. L., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E.,
Chow, E. W., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L.,
García-Miñaúr, S., George, S., Lang, A. E., Repetto, G., Shugar, A.,
Silversides, C., Swillen, A., van Amelsvoort, T., McDonaldMcGinn, D. M., & Bassett, A. S. (2015). Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine, 17,
599–609.
Habel, A., Herriot, R., Kumararatne, D., Allgrove, J., Baker, K.,
Baxendale, H., Bu'Lock, F., Firth, H., Gennery, A., Holland, A.,
Illingworth, C., Mercer, N., Pannebakker, M., Parry, A., Roberts, A., &Tsai-Goodman, B. (2014). Towards a safety net for management of
22q11.2 deletion syndrome: Guidelines for our times. European Journalof Pediatrics, 173, 757–765.
Kates, W. R., Mariano, M. A., Antshel, K. M., Chandra, S., Gamble, H., &Giordano, M. (2019). Trajectories of psychiatric diagnoses and medication usage in youth with 22q11.2 deletion syndrome: A 9-year longitudinal study. Psychological Medicine, 49, 1914–1922.
Klaassen, P., Duijff, S., Swanenburg de Veye, H., Vorstman, J., &Beemer, F. (2013). Behavior in preschool children with the 22q11.2
deletion syndrome. American Journal of Medical Genetics. Part A, 161A,
94–101.
Kok, L., van der Waa, A., Klip, H., & Staal, W. (2016). The effectiveness of
psychosocial interventions for children with a psychiatric disorder andmild intellectual disability to borderline intellectual functioning: A systematic literature review and meta-analysis. Clinical Child Psychology
and Psychiatry, 21, 156–171.
Koslowski, N., Klein, K., Arnold, K., Kösters, M., Schzwohl, M., &Salize, H. J. (2016). Effectiveness of interventions for adults with mild
to moderate intellectual disabilities and mental health problems: Systematic review and meta-analysis. The British Journal of Psychiatry,
209, 469–474.
Lee, T. H., Blasey, C. M., Dyer-Friedman, J., Glaser, B., Reiss, A. L., &Eliez, S. (2005). From research to practice: Teacher and pediatrician
awareness of phenotypic traits in neurogenetic syndromes. American
Journal of Mental Retardation, 110, 100–106.
McDonald-McGinn, D. M. (2018). 22q11.2 deletion syndrome: A tiny
piece leading to a big picture. American Journal of Medical Genetics.
Part A, 176, 2055–2057.
Morishima, R., Kumakura, Y., Usami, S., Kanehara, A., Tanaka, M.,
Okochi, N., Nakajima, N., Hamada, J., Ogawa, T., Ando, S., Tamune, H.,
Nakahara, M., Jinde, S., Kano, Y., Tanaka, K., Hirata, Y., Oka, A., &Kasai, K. (2021). Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2
deletion syndrome: A cross-sectional survey in Japan. American Journalof Medical Genetics. Part A, 188, 37–45.
Mosheva, M., Pouillard, V., Fishman, Y., Dubourg, L., Sofrin-Frumer, D., &Serur, Y. (2019). Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome.
European Child & Adolescent Psychiatry, 28, 31–42.
Niarchou, M., Moore, T. M., Tang, S. X., Calkins, M. E., McDonaldMcGuinn, D. M., & Zackai, E. (2017). The dimensional structure of psychopathology in 22q11.2 deletion syndrome. Journal of PsychiatricResearch, 92, 124–131.

Niklasson, L., & Gillberg, C. (2010). The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Researchin Developmental Disabilities, 31, 185–194.
Qin, X., Chen, J., & Zhou, T. (2020). 22q11.2 deletion syndrome andschizophrenia. Acta Biochim Biophys Sin (Shanghai), 52, 1181–1190.
Reilly, C. (2012). Behavioural phenotypes and special educational needs: Is
aetiology important in the classroom? Journal of Intellectual Disability
Research, 56, 929–946.
Reilly, C., Murtagh, L., & Senior, J. (2015). The impact on the family of fourneurogenetic syndromes: A comparative study of parental views. Journal of Genetic Counseling, 24, 851–861.
Reilly, C., Senior, J., & Murtagh, L. (2015). A comparative study of educational
provision for children with neurogenetic syndromes: Parent and teacher
survey. Journal of Intellectual Disability Research, 59, 1094–1107.
Sandini, C., Chambaz, M., Schneider, M., Armando, M., Zöller, D., &Schaer, M. (2020). Pituitary dysmaturation affects psychopathology
and neurodevelopment in 22q11.2 deletion syndrome. Psychoneuroendocrinology, 113, 104540.
Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W., Fung, W. L., & van
den Bree, M. (2014). Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international
consortium on brain and behavior in 22q11.2 deletion syndrome. The
American Journal of Psychiatry, 171, 627–639.
Swillen, A., Devriendt, K., Legius, E., Eyskens, B., Dumoulin, M.,
Gewilling, M., & Fryns, J. P. (1997). Intelligence and psychosocial
adjustment in velocardiofacial syndrome: A study of 37 children andadolescents with VCFS. Journal of Medical Genetics, 34, 453–458.
Swillen, A., & McDonald-McGinn, D. (2015). Developmental trajectories in
22q11.2 deletion. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 169, 172–181.
Tabe, A. (2011). Trends in special needs education in Japan's high schools: An
examination of the current situation and recommendations for the future.
The Japanese Journal of Special Education, 49, 317–329 (in Japanese).
Tamune, H., Kumakura, Y., Morishima, R., Kanehara, A., Tanaka, M., &Okochi, N. (2020). Toward co-production of research in 22q11.2 deletion syndrome: Research needs from the caregiver's perspective. Psychiatry and Clinical Neurosciences, 74, 626–627.
Tobia, V., Brigstocke, S., Hulme, C., & Snowling, M. J. (2018). Developmental changes in the cognitive and educational profiles of children andadolescents with 22q11.2 deletion syndrome. Journal of Applied
Research in Intellectual Disabilities, 31, e177–e181.
Vergaelen, E., Claes, S., Kempke, S., & Swillen, A. (2017). High prevalenceof fatigue in adults with a 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, 173, 858–867.
Wray, E., Shashi, V., Schoch, K., Curtiss, K., & Hooper, S. R. (2013). Discrepancies in parent and teacher ratings of social-behavioral functioning of children with chromosome 22q11.2 deletion syndrome:
Implications for assessment. American Journal on Intellectual and Developmental Disabilities, 118, 339–352.

SUPPORTING INF ORMATION
Additional supporting information can be found online in the Supporting Information section at the end of this article.

How to cite this article: Tanaka, M., Kanehara, A., Morishima,R., Kumakura, Y., Okouchi, N., Nakajima, N., Hamada, J.,
Ogawa, T., Tamune, H., Nakahara, M., Jinde, S., Kano, Y., &Kasai, K. (2023). Educational challenges for 22q11.2 deletion
syndrome in Japan: Findings from a mixed methods survey.
Journal of Applied Research in Intellectual Disabilities, 36(3),558–570. https://doi.org/10.1111/jar.13079

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