Clinical Guidance ofPsychosocial Support
for 22q11DS in theTransitional Period of Life
～ Essence for school and medical professionals involvedin the important l i f e s t a g e s of child and adolescent development ～Table of contents
p. 0 2

1 . About the Guidance
2. 1 0 essential shared capabilities

p. 0 3for those involved in support

3. Comorbidities of 22q11.2 deletion syndrome

p. 0 53 - 1 . Heart disease3-2. Ear, nose, and throat ( E N T ) , oral surgery, dysarthria, etc.
3-3. Immunodeficiency
3-4. Developmental disabilities and psychiatric disorders■

Autism Spectrum Disorders ( A S D )■Attention Deficit/Hyperactivity Disorder (AD H D )■Schizophrenia, psychotic symptoms■

Anxiety (Anxiety Disorders)

3-5. Intellectual disability and cognitive developmental characteristics■■

Intellectual disability
Understanding abstract
concepts■

Language Development■

High level of anxiety and fear■

Easiness to get tired (fatigue)■

Arithmetic■

Memory■Communication■

Hearing
Sensitivity

4. Support in medical carep. 0 9COLUMN：Plain Japanese

5. Support in education

p. 1 35 - 1 . Understanding the difficulties associated with hard-tosee disabilities due to multimorbidity

5-2. Needs-based support and guidance
5-3. Support that focuses on the strengths of the individual
COLUMN：How School Teachers Can Help

6. Support for transitions (from childhood to adulthood)p. 1 96-1. Transitional support

6-2. Disease notification
COLUMN：18-year-old barrier

7. Family support
7 - 1 . Support for caregivers
7-2. Siblings
01

p. 2 1

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About the GuidanceWith the development of medicine, more and more children are living withmultiple diseases and requiring long-term medical treatment and care. Whilethe children with special healthcare needs are now able to live in the community, theconventional medical and educational systems have highlighted the difficulty
in providing services that meet the needs of the individuals and family,
especially those who have multiple disabilities.
This booklet is a concise version of the guidance developed in supporting
the integrated lives and well-being of individuals with 22q11.2 deletion
syndrome (22q11DS) and their families. It focuses particularly on school children
and adolescence, when it is difficult to provide a seamless transition ofservices, and describes the knowledge and attitudes that schools and healthcare professionals should implement.
We hope that this booklet will help those involved in education

andhealthcare to recognize the invisible difficulties and needs due to the overlapof disabilities in 22q11DS, which would provide a clue to realize a society thatno individuals with the syndrome and their families left behind.

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1

1 0 essential shared capabilities
for those involved in support
Can provide a safe and secure place to stay.
Assuring that people with 22q11DS and their families can feel safe and secure is a prerequisite forsupport. It is necessary to rethink the nature of environments such as hospital waiting rooms, schoolclassrooms, and workplaces, and to create places that would include people with diverse characteristics.

2

Explore and suggest specific ways to improve accessibility tosupport.
It is necessary to eliminate gaps in accessibility to enable appropriate use of necessary support services,taking into consideration the characteristics of the individual, such as high trait anxiety andhypersensitivity. It is desirable to propose multiple concrete options in a flexible manner, such as providing
a quiet place to spend time or enabling online consultation.

3

Listen to and be close to the experience of the various
complex difficulties caused by overlapping diseases anddisabilities.
It is important to listen to the experience of compounded difficulties, understanding that the difficulties
experienced by the individual and family are magnified by the many overlapping diseases and disabilities.

If the existing support is not appropriate for a person with multiple disorders and disabilities, it isnecessary to try to provide individualized and flexible support.

4

Respect diverse ways of life without imposing a uniform way of
thinking or values.
We need to respect diverse values and ways of life without unilaterally imposing existing norms suchas establishment of independence from caregivers. We need to be aware that the norms inherent in society
and support structures themselves can be stressful for individuals and families with overlapping disorders

and multiple difficulties, and we need to promote positive efforts to eliminate them.

5

Learn from the history and experiences of the individual
and his/her family and respect his/her own decisionmaking.
It is necessary to learn from the history and experiences of the individual and family members who have
lived with various difficulties and devised their own solutions, and to respect their own decision-making
based on an understanding of the context. In order to support decision-making, it is necessary to provide
multiple concrete options and to guarantee experiences.

03

6

Through dialogue, the respective needs of the individual and family can
be clarified and support can be provided accordingly.
Because of experiences of not being able to obtain the support they sought, the individuals and families may
have given up on the support they originally needed, or they may not know what kind of support to seek. Therefore,
it is necessary to clarify the values and apparent/latent needs of the individual and family through dialogue, and toprovide support accordingly.

7

Be aware of challenges within the existing support structure, including
existing support practices and systems, and take positive steps toovercome them.
The overlap of disorders and disabilities can make it difficult to match the difficulties faced by the individualwith the existing regular support structures, and can in fact intensify the difficulties. From the perspective of
the social model of disability, we need to look at such disabilities on the side of society and devise specific ways
to resolve issues on the side of support structures.

8

Communicate necessary and sufficient information in an easy-tounderstand and organized manner.
Organize information about the 22q11.2 deletion syndrome and available support systems in a way that is easy
for the person/family to understand and use, after the supporters has a better understanding of the syndrome andthe support systems available to them.

9

Continue to learn about areas outside their own expertise and provide
integrated care.
Recognize that the stove-piped approach to consultation and support by specialty does not fully address thecomplex problems faced by individuals and families. In order to provide integrated care, we must be willing to learn
from the voices of individuals and families and to broaden ourknowledge of fields outside of our specialty.

10

Build multidisciplinary and multi-agency partnerships and work together
in a positive manner, confronting tensions between the parties involved
when they arise due to differing interests and goals.
The more overlapping disorders and disabilities there are, the more difficult it is for a single staff to provide all
specialized care. Based on this premise, build partnerships with multiple professions and institutions, andstrive to provide integrated care while sharing information by holding care meetings that include the individualand family.

04

3

Comorbidities of 22q11.2
deletion syndrome
3-1. Heart disease
Congenital heart disease is a significant condition associated with
22q11DS. Common cardiac problems include Tetralogy of Fallot, aortic archtransection, ventricular septal defect, and atrial septal defect. These conditions
often necessitate major surgery during childhood and may require reoperationin later life. Many families describe the psychological turmoil theyexperienced upon learning of their child’s condition shortly after birth as "likea bolt from the blue."

3-2. Ear, nose, and throat (ENT), oral
surgery, dysarthria, etc.
Otolaryngological and oral surgical disorders such as cleft palate, soft
palate, submucosal cleft palate, cleft lip, and nasopharyngeal dysarthria arecommon in 22q11DS. While an obvious cleft palate is easily diagnosed soonafter birth, a submucosal cleft palate may be difficult to recognize until earlychildhood or later. Speech therapy is often required for dysarthria. The
presence of dysarthria can cause communication stress and low self-esteem inpeer groups.
Some individuals may experience recurrent epistaxis, which can be ahindrance in their daily lives.

05

3-3. Immunodeficiency
Cellular immunodeficiency associated with thymic hypoplasia may be seen in 22q11DS.
This condition can lead to recurrent infections, which may trigger the diagnosis.
Immunodeficiency and recurrent infections are often major factors preventing social
adaptation. They are particularly vulnerable to the behavioral restrictions imposed by
the recent COVID-19 pandemic.

3-4. Developmental disabilities

and psychiatric disorders
Autism Spectrum Disorders (ASD)
ASD is often diagnosed in childhood: among those with 22q11DS, 13% were diagnosed between the agesof 6-12, 27% between 13-17, and 16% overthe ageof18, according to a report.

Attention Deficit/Hyperactivity Disorder (ADHD)
ADHD is often diagnosed in childhood; among those with 22q11DS, 37% were diagnosed between theages of 6-12years, 24%between 13-17, and 16%over the age of18, according to a report.

Schizophrenia, psychotic symptoms
Individuals with 22q11DS may experience schizophrenia-like psychotic symptoms such as
hallucinations and delusions during adolescence and young adulthood. The prevalebnce of schizophrenia
spectrum disordersis estimated to beabout20-25% in 22q11DS.

Anxiety (Anxiety Disorders)
Individuals with 22q11DS have a high rate of anxiety (anxiety disorders), 35% reported in children
and adolescents. High levels of trait anxiety are associated with poor adaptive functioning and interferewith daily living skills.

06

3-5. Intellectual disability and cognitive

developmental characteristics
Intellectual disability
The estimated prevalence of intellectual disability, including mild to severe, is 45%, and theaverage overall IQ for individuals aged 6-24 with 22q11DS is 71. In particular, visual-spatial
cognition, arithmetic, and abstract reasoning are considered areas of weakness.

Arithmetic
Although individuals with 22q11DS can quickly read numbers and perform basic calculations,they often struggle with mental arithmetic and mathematical reasoning. These difficulties may stemfrom poor memorization, working memory, and visuospatial cognitive function. Therefore, it isimportant to establish basic arithmetic skills through step-by-step procedures.

Understanding abstract concepts
The child has difficulty in understanding abstract concepts, and delays in learning may become
noticeable after the 3rd or 4th grade of elementary school, when the content of subject learning
becomes more abstract. Because of their relatively good language comprehension, it is sometimes
difficult for teachers to understand the child's difficulty in thinking logically based on visual
information.

MemoryMemory seems to be both a strength and a weakness. While their ability to recall newly learned
content after some time is age-appropriate, they struggle with recalling story details, rememberingvisual spaces and faces, and not only retaining information but also processing it.

Language Development
Many individuals with 22q11DS experience delays in language development. Two factors

are believed to contribute to the delay: one is abnormalities of the palate and the other is cognitive
developmental problems. The effects of dysarthria must be taken into account when evaluating
autism spectrum disorders and cognitive developmental delays based on early childhood speechdelays. Because of their difficulty in understanding abstract concepts, they may have difficulty
adapting to discussion or lecture-style classes as they progress through the grades, and theirability to express themselves verbally may be underestimated by others.

07Communication
Behind the obstacles in communication is a complex combination of factors such as limited vocabulary,difficulty in understanding metaphors and abstract concepts, and difficulty in understanding the intentions ofothers. These qualities also vary greatly from person to person, but communication can be facilitated by finding andworkingontheindividual'sstrengths, suchas havingbetterinputthanlanguageoutput.

High level of anxiety and fear
Although many individuals are highly anxious, it is easy for schools and other institutions to treat them as if they werenormal children with anxiety and that they will be fine as long as they are accustomed to it. However, anxiety in
22q11DS is considered to be a characteristic of the disease. Pedagogy such as accustoming the child to a certain
level of fear may be counterproductive and may eventually lead to traumatic experiences. Therefore, even if you as an
educator think it is in the child's best interest, you should carefully consult with the child's caregivers and health careproviders tomakeaprudentdecision.

Hearing Sensitivity
As with anxiety and fear, auditory hypersensitivity is also likely to be a characteristic of the disorder. Responses
such as accustoming the child to it may be counterproductive and, in turn, lead to traumatic experiences. In addition, we
often hear that it is difficult for hospital and school staff to understand and ask for consideration when a person has
auditory sensitivity to certain voices and sounds, such as children's voices (because it is common knowledge that thesesounds should be pleasantforthemajorityofpeople).

E asiness to get tired (fatigue)
One of the most notable characteristics of people with 22q11DS syndrome istiredness or fatigability which can lead to reluctance to participate in events,
go to school, and other activities. Some people say that it is difficult to ask
for consideration from school teachers, etc., because it is easy to be perceived
as selfishness, parental spoiling, or that it is better to train the child for his/her own
growth. It is necessary for those around the child to understand and watch over
him or her, as the reason why he or she gets tired easily is that he or she isphysically prone to cardiac and endocrine abnormalities, and mentally he or
she tends to feel depressed.

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Support in medical careChildren with 22q11DS may require medical treatment such as surgery for cardiac diseases
from an early age.
In such cases, caregivers are often required frequent hospital visits, feeling the threat of theirchildren’s lives. They are often asked by medical professionals to raise the child under theirprotection.
Some cases are diagnosed with 22q11DS, as a result of repeated hospitalization due toinfections and thus being suspected of immunodeficiency.
Even when their physical illnesses have settled and they have grown into adolescence andyouth (the time when transition to adult medical care should be considered), they often havedifficulty understanding the issues that may arise in various situations such as schooling,
employment, marriage, and childbirth, and living independently with the necessary support.
In addition to physical disabilities from early childhood, the caregiver may notice intellectualand developmental disabilities and schizophrenia-like symptoms through school age andadolescence, and it is not easy for the person to understand and make independent decisions about
the support he or she needs, including medical care.
This chapter describes the medical difficulties people with 22q11DS and their caregivers
experience and the types of support needed.

09Medical professionals should continue tolearn about 22q and strive to provide
comprehensive medical care.

Caregivers’voices

In the past, when parents explained theillness to staff, the staff would look

A local physician told me, "I have nounhappy and often took the attitude that it

experience treating this disease andwas difficult to provide special care. I am

don't know what to do, so please go

grateful that the current staff are willing toto another hospital."

accept my child.

Lack of knowledge of medical professionals about 22q11DS can lead to delayed diagnosis. 22q11DS hasa highly individual course and multiple diseases and symptoms coexist, so some medical professionals feel
reluctant to treat them. This makes it difficult for some patients to find a hospital where they can receive
treatment. Some people attend multiple departments, such as cardiac surgery, pediatrics, otolaryngology,
oral surgery, internal medicine, orthopedics.... Physicians need to have an integrated understanding ofsymptoms in their own specialty and in other medical departments. Of course, it is impossible for a one
physician alone to diagnose, treat, or provide care outside of his or her field of expertise. They need to referpatients to appropriate specialists or specialized institutions. Physicians are expected to act responsibly. For
example, physicians should not simply refuse to see a patient, but should examine the patient and thenappropriately refer the patient to another medical institution.
Patients who visit multiple departments may not be able to strictly follow the physician's instructions
depending on the progress of treatment in each department. Accompanying children to medical
appointments and coordinating each treatment is a burden on caregivers. Some people go to multiple
medical departments at a general hospital, but it can be inconvenient to visit a general hospital for minor
illnesses such as a cold. Medical institutions need to work together to share information and understand thetreatment process and stage of each department. Physicians also need to carefully consider the burden ofvisiting multiple medical institutions and departments, and of diagnosing and treating multiple diseases

simultaneously.

10Considering the burden of having multiple diseases, medical
institutions should collaborate with each other to share
information on the treatment plan of each department.

Caregivers’voices
The physician decided to postpone the heart surgery because the tooth decay treatment
had not been completed. The cardiac surgeon criticized the mother, saying, "Why didn't
you arrange for the dental treatment to be completed before the surgery?"Dr. A said, "Please ask Dr. B why he said that,“, and I was confused. I got tiredof continuing to be a “messenger”.

Even when I consult my physician about non-specialty or social services, he always

tells me to "find a hospital yourself" or "go to the government office yourself andask.” I'm tired of playing the role of a "private care manager."

Patients and their families strive to adapt to changes in social life during each stageof infancy, childhood, and adolescence. Medical professionals need to understand thebackground of the patient's and their family's lives and provide treatment. Medical
professionals will approach treatment at that point, but patients and their families will

have to live with the illness for the rest of their lives. Medical professionals need tofollow up to ensure that caregivers and siblings also live healthy lives so that families
can support each other.

11Consider patients’ and their families' life backgrounds
and strive to provide them with thoughtful and flexible
medical care.

Caregivers’voices
When my child was hospitalized, I
had to attend to him 24 hours a day.

When my child was young, it was difficult

I left my small child at home to be

for me to accompany his medical visits,with him.

leaving my small child at home.

CO LU M N

Plain Japanese

According to a 2004 survey by the National Institute for Japanese Language and Linguistics, over 80% of the public
expressed a desire for doctors to rephrase or add words to their explanations to make them easier to understand. In a
2008 survey, less than 20% of the public was familiar with terms such as "remission" and "QOL," and less than 40%

correctly understoodterms like "collagen disease" and "sepsis.“
For patients to make informed medical decisions, they must understand the meaning and content of these terms.
Therefore, it is the responsibility of medical professionals to provide easily understandable explanations. Medical careproviders must find ways to translate complex language into simpler terms for better patient comprehension.
When patients cannot understand the language used by medical professionals, it is difficult for them to make wellinformed decisions about their healthcare. Hence, medical professionals need to communicate in a manner that is easy
for non-experts to understand. By making an effort to communicate clearly, medical professionals can motivatepatients to actively seek understanding. Sharing information and fostering mutual trust between medical professionals

and patients are fundamental to ensuring medical safety and security.

12

5

Support in Education
In 1994, UNESCO proposed the Salamanca Statement to promote inclusive education for all children, including

those with special educational needs. The statement emphasizes that "every child has a fundamental right to educationand must be given the opportunity to achieve and maintain an acceptable level of learning." Since then, inclusive
education has become an international trend.
In Japan, the Ministry of Education, Culture, Sports, Science and Technology (MEXT) has embraced this trend andcompiled the "Promotion of Special Support Education for Building an Inclusive Education System Toward theFormation of a Coexisting Society." However, there is debate over the concept of inclusivity. MEXT states that ininclusive education, it is important to pursue learning together in the same place and to develop a diverse and flexible
system that can provide instruction that meets individual educational needs. They believe it is necessary to prepare acontinuum of "diverse learning places" such as regular classes in elementary and junior high schools, instruction
through day classes, special-needs classes, and special-needs schools, and take measures to separate places. However,the United Nations review of the Convention on the Rights of Persons with Disabilities in Japan, held in Geneva in thesummer of 2022, raised concerns that special needs education in separate places may not be inclusive.
Currently, children with 22q11DS in Japan receive their education within different frameworks, such as regularclasses, special support services in resource rooms, special support classes, or special support education schools.
However, due to the complexity and individual nature of the disease, it is challenging to initiate and continue
educational guidance tailored to individual characteristics before schooling. The burden on caregivers in providing theirchildren with a suitable education, including gathering information and choosing the right school and class to attend,needs to be addressed in the future. Additionally, many children with 22q11DS require attention to various physicalsymptoms, such as cardiac diseases, during school. Study delays can also be an issue if they attend treatment
frequently. Many children have comorbid intellectual disabilities and neurodevelopmental disorders, which may makeit difficult for them to find their school place. Their inability to fit in with the group can be traumatic. While care must
be taken to ensure that excessive stress in school life does not lead to the onset or worsening of psychiatric symptoms,
there are many difficulties experienced by the children and their families in education. This includes difficulties inbeing understood by teachers, classmates, and other parents. With this background in mind, we will summarize thesupport required in the education of children with 22q11DS from several perspectives.

5-1. Understanding the difficulties associated with hard-to-see
disabilities and multiple disabilities
It is important to understand that even with the same 22q11DS, each individual may have very different difficulties
due to physical, intellectual, and mental disabilities. Among the comorbidities described in Section 3-5, certain
characteristics such as high anxiety/fear, auditory hypersensitivity, and fatigue can lead to reluctance to attend
school and conflict with the school's values. This can be counterproductive and potentially traumatic for the child ifthey are forced to go too far. It is important to keep in mind (3) the ability to listen to and be close to the experienceof various complex difficulties caused by overlapping diseases and disabilities and (4) the ability to respect diverse
ways of life without imposing one way of thinking or value system in the "10 basics required of people involved insupport.“ It requires careful discussion with the child, caregiver, and medical provider, and a flexible attitude thatin some cases there may be an option not to attend school or not to allow the child to attend school.

13

Some children with 22q11DS have multiple comorbidities, and some have severe disabilities, while others have borderline disabilities
with no one disease or disability being severe. When physical and intellectual disabilities are combined, there may be biased
accommodation to either disability. For example, this can lead to insufficient attention to intellectual disabilities even when attention is
given to physical disabilities, or insufficient attention to motor limitations due to internal disorders even when attention is given tointellectual disabilities. Even if there are overlapping disabilities, individuals with borderline physical and intellectual disabilities can beevaluated as something the individual should be able to do with effort and be required more than they are willing to put in at their own
pace. Many caregivers believe that due to the borderline nature of these conditions, their child does not fit into the existing framework of
regular or special needs classrooms.
Additionally, children with 22q11.2 deletion syndrome often have to attend various hospital departments in between their schooling,which makes it challenging for them to keep up with their classes.
To address the obstacles faced by individuals with these overlapping diseases and disabilities in the current educational environment,
which is primarily designed with stereotypical disability characteristics, it is crucial to provide personalized support and make necessary
adjustments.

Caregivers’voices
Please understand that physical, intellectual, and mental
disabilities vary greatly from child to child and that there areindividual differences.

Please understand that in school life, even if they seem
capable on the surface, they are often physically andmentally tired and struggle to perform at their best.

In the special needs class, there are children with various
characteristics. For my child, who is sensitive and vulnerable
to stress, the voices in the classroom may seem loud, andbeing with classmates can cause a great deal of stress.
Although we enrolled in the school after discussing theirsituation, it is very difficult for us to receive consideration forour individual physical condition and characteristics in a
special needs class that has many students.

Mychild receivedconsideration forexerciselimitationsduetohis
cardiac condition, but his mild intellectual and emotionaldifficultieswere notaswell understood(e.g.,extremeanxiety).

The teachers at the school listened to us parents with ateachable attitude and were ﬂexible and resourceful in theirinvolvementthatsuited hischaracteristics.

When my child was unable to attend school, the teachers were eager
to encourage attendance. However, we ultimately decided not tosend them to school because we had heard from other families who
regretted forcing their child to go. We are now grateful to the older
families who sharedthosepainfulexperienceswith us.

My child has borderline physical and neurodevelopmental
disabilities. Compared to children with more severe
physical disabilities or children with neurodevelopmental
disabilities plus intellectual disabilities, these disabilities
may seem minor and one might expect them to be able to
do more. However, despite being halfway there, there arestill overlapping difficulties. I believe that teachers do not
fully grasp the concept of "multiplication of disabilities." Iwould like them to understand that even if each disability
is borderline, the combination of multiple disabilities canmake life more challenging.

My child has an intellectual disability and a cardiac condition.
After considering the divisions between intellectual and physicaldisabilities, he was enrolled in a special needs school for
intellectual disabilities. In elementary school, my child was able toparticipate in moderate excursions and activities based on his
physical condition and mobility limitations. However, when hetransitioned to a special needs school, he struggled to keep up withhis peers physically and faced difficulties in having themaccommodate his physical condition. The educational setting
primarily focusedon properlydirectingenergy.

145-2. Support and guidance based on needs
It is essential to listen to the voices of both the individual and their caregivers and to collaboratively develop
flexible support and guidance plans tailored to each person's unique characteristics and needs, while also adjusting

the environment accordingly.

Caregivers’voices

I was uncertain whether to enroll my child in a special supportclass or a regular class with occasional support. Although I
was concerned he might struggle academically, I wanted him
to experience school as a small society.

It would be good if there is an environment where they can be taught
patiently and repeatedly so that they can understand.

Havingknowledgeablesupporters orkeypersonswithintheschoolwhocan
thinkthroughissues with us would bereassuringforboth thefamilyand theindividual.

Math is particularly difficult for her. It seems she doesn't quite
grasp the concept of the number 2.

I hope the school values each child's individuality and offers
education that enhances their strengths based on theirinterests, teaches daily life rules, and provides experiences incommunication and interaction.

I want them tounderstand that although they seem tobe able to do
everything, they get tired easily and are mentally delicate andsensitive. Please treat them normally, but understand that there
are many things they cannot do, and I don't want them to bepushed beyond their limits.

When my child stopped attending school, no one listened to how
tough school life was for him. The principal even suggested, "Isn't the
problemwithyourchild?"

From the voices of caregivers, it is clear that children with 22q11DS face complex and highly individualized challenges due tooverlapping conditions. Each child has a wide range of characteristics and needs, requiring more flexible support tailored to their
physical and mental state at any given time. When developing individualized education and instructional plans, it is essential togather information not only from medical professionals but also to listen to the wishes and hopes of the child and their caregivers.
Observing what the child can do, or is close to achieving, and focusing on their interests and concerns is crucial for creating
specific support and instructional goals. Additionally, sharing information with the child, caregivers, and relevant parties is vitalto identify the necessary support during academic learning, adjustments for sensory sensitivities (such as sounds and smells),
communication with friends, and support in social situations (including individual instruction). Specific strategies should beoutlinedfor individualizededucation and instructional plans.

15

For parents sending their child to school for the first time, they may not have sufficient information about the school or education system. The

burdenofgatheringinformationandconsideringan educationalenvironmentthat canflexiblyaddressintellectualandphysicalchallengesshould
alsobeacknowledged.Additionally,aschildrenprogressthrough gradesandfacedifficultiesadapting,parentsaresometimesblamed formaking
school choices. It's important that experts thoroughly evaluate the child's characteristics and the suitable educational environment, share thisinformation,andcollaborativelyconsidertheappropriateeducationwiththecaregivers.

5-3. Support focused on the strengths and advantagesof the individual
People with 22q11DS exhibit a wide range of individual differences, and have many strengths and advantages. In
addition to assessing their disabilities and needs as discussed in sections 5-1 and 5-2, it is equally important to focus
on their strengths. It is the individual and their caregivers who know the individual's strengths best, so it isbeneficialtoaskthemforinsights.

Commonly observed strengths include:

Memorized calculations

Reading and understanding

using given formulas

basic information

Spelling andgrammar

Memorization

Computer skills

Focus on simple tasks

Typing speed

Motor-sensory skills

Rhythmic and(e.g., dancing)musical talent

Pleasant personality

Willingness to learn

Kindness16

5-4. Establishment of a cooperative

support system
It is necessary to establish a support system in cooperation with medical care, welfare,and government agencies.

Caregivers’voices

Not knowingwhich school was the best, we hadto research each
one individually and gather information.

We would like to have someone who can connect us incooperation, rather than the foster caregivers bridging all thegaps.

I am raising my child with independence in mind, but I don't
know how to create a place for him or her to stay after highschool.

I would like to see information shared with caregivers andcollaboration with medical and social services regarding
understanding of the disease. Wewould like to knowwhat kind of
information the caregivers should tell the school and they should
beabletosharewiththeschool.

It would be reassuring for families if there is an environment where medical
professionals,schoolpersonnel,andothersunderstandthediseaseandcanbridgethe
gap using pamphlets and tools created by family associations and medical
institutions.

Another difficulty for families in education is the lack of cooperation between schools and other institutions. This is due to the current situation, as
mentioned by the caregivers above, where families have to pass on information to each place by themselves to bridge the gap. For families who are
involved with manymedicalinstitutions andsupport organizations,it isabigburdenfor familiesto graspandconveyallof thisinformation.Forthis
reason, there is a need for places and environments where schools and families, education and medical care, education and welfare, or all of them cancollaborate, and for people who can connect them. In addition, the support provided by municipal boards of education in consultation services when
making school choices, and the existence of partnerships between schools and other services such as after-school day care services, can be a source ofstrengthforthefamily.

Medical professionals can help make mental difficulties, such as hypersensitivity and anxiety, more understandable by documenting
them in medical certificates. This can help in obtaining support and providing clear feedback to educational institutions based on
psychological assessments. It has been reported that children with 22q11DS tend to havehigher expressive ability than cognitive ability. Becauseof their expressive abilities, those around them tend to estimate their abilities ashigh, but in reality, theyoften lackproficiencyin life skills that are
essential for independence. Another prominent characteristic of children with 22q11DS is their difficulty with arithmetic. It would be good if
information on thesecharacteristicscouldbesharedbetweenthemedicalandschoolsettings,andsupportivemeasurescouldbetaken.
Considering education for children with 22q11DS whodo not fit into the existingeducational systembecauseof the difficulties associated with
theirmultiple disabilitiesmayprovideanewperspectiveontheeducationalsystemforallchildren,notjustthosewithspecialneeds.

17

CO LU M N

How School Teachers Can Help
Unfortunately, the name of the disease, 22q11DS, is still not well known. In many cases, school teachers have never heard of the disease
beforeandmayonlylearnofit whentheymeetachildwhohasactuallybeendiagnosedwiththedisease.Wewouldliketosharewithteacherswho
havepickedupthisbooklet intheirsearchforbetterwaystosupporttheirchildren.

1

Tell the child and caregivers that you know the name of the disease 22q11DS, orthat you have never heard of it before but would like to discuss it together.
Children and caregivers often talk about their hurtful experiences of being told "I don't know" or "I don't
understand" in various situations and not being able to discuss the issue as much as they would like.
Conversely, it is a great relief to be accepted as "knowing the name of the disease" or "you have such adiagnosis. Establishing a relationship where parents, children, and schools can feel comfortable consulting witheach other will be the first step in providing support.

2Syptoms and severity vary greatly from person to person, so please pay attention
to the characteristics of "this child" in front of you.
The mmanifestation of symptoms and stumbling blocks in children with 22q11DS is characterized by large
individual differences. As noted earlier in this guidance, there can be a variety of comorbidities, but how manyof these diagnoses a person receives and the extent to which they cause stumbling blocks in daily life varies
from person to person. I believe that this diversity and individual differences are the main reasons why teachers
have trouble dealing with this issue at school. First of all, we would appreciate it if you could confirm with theindividual, his/her caregivers, and in some cases, medical institutions and other related parties, what kind of
illnesses or difficulties "this child" has when he/she comes to school.

3

Many children with 22q11.2 deletion syndrome seem to be easily anxious. A safe
and secure environment that respects the child's pace and allows the child to say"help" when in need is desired.
It is also said that children with 22q11DS tend to be better at verbal interactions than at understanding things,
and may be perceived by others as "understanding" even if they do not actually understand. As a result, theytend to demand higher standards from those around them. Please be aware that children who try their best to
meet expectations may, inwardly, feel constantly anxious because there are so many things they don' t
understand. Children who try too hard and become tired, or who want to escape from anxiety, leading tounusual behavior, need to be involved in a way that does not require them to try too hard. Respect the child's
pace and watch his or her efforts. In doing so, it is helpful to discover the child's strengths and interests. Somechildren with 22q11DS excel in the arts, such as music and painting, and being recognized for their strengths
can boost their self-esteem. An environment in which the entire class recognizes each other and can say "help"
when in need is the foundation for a safe and secure school life for the children.

4

Teachers may also feel difficulties in dealing with the situation and may want todiscuss it with someone. At that time, please consider consulting with relatedorganizations together as well.
It is likely that teachers will often find it difficult to cope with a child in front of them who has
an unfamiliar disease name and needs support. In such cases, they may consider using a consultation systemthat includes administrators and others in the school, and consulting with a school counselor or a school social
worker. In addition, the individual is often involved with other parties outside of the school, such as a hospital.
We encourage you to contact these non-school parties when they are available. By sharing your ideas withthem and discussing any difficulties you may be experiencing, you may be able to find better ideas and reducethe burden of having to deal with the situation on your own. Teachers also need a safe and secure environment.

18

6

Support for transitions (from childhood toadulthood)

6-1. Transitional support
Although chil dren's cognitive development is stil l in its inf ancy and their self-determination may
not be sufficient, medical treatment should not prevent children from fully recognizing their own situation andmaking their own future decisions as much as possible.
To support the continuity of medical care and life for children with illnesses and promote theirautonomy, continuous childcare support from an early stage, medical care support consideringdevelopmental diversity, and active regional cooperation (including welfare and education) are more

important than ever.

1

Strengthen the recognition of medical staff→ Establish a system (especially pediatricians) to recognize psychosocial problems ofchildren with illnesses.
Strengthening of the psychosocial support system

23→ Establishment of a support system involving multiple professions such as liaisonconsultation psychiatrists (child mental health specialists), psychologists, social workers,
etc.
Implement regional cooperation (welfare, education, medical care) fromthe early stage (e.g., use of the system for specified chronic pediatric diseases,
connection to public health nurses in charge, etc.).

Caregivers’voices（There are (caregiver +child)/2 adolescent challenges.
After graduating from pediatrics, I transferred to internal
medicine, but as an adult, I had different departments to see
depending on my symptoms, so I didn't have a doctor who had acomprehensive knowledge of mycondition, so I had to run to thepediatricianforemergencies.

196-2. Disease notification
In some cases, the diagnosis is informed soon after the child is born,while in others it may take a long time before the diagnosis is given. Somecaregivers feel various sensations of hopelessness, helplessness, and guilt
when their child is diagnosed, so it is necessary to communicate this withpsychological considerations in mind. They also feel helpless andfrustrated by having to wait years before their child is diagnosed.

Caregivers’voices

I was noticed of my child’s diagnosis when I had justgiven birth to mychild.I didnotwantto believe it.

I don't know when or howold tomake the notification,
whoshoulddoit, orhowmuch totell my child.

I thoughtthat disease notification was necessary to understand that having various physical ailments and being
uncomfortable and in pain withthings that are normal andokay for many peopleare due tothe22q11DS.

CO L U M N

18-year-old barrier
In transitions, the problem of the so-called "18-year-old barrier" arises because of the division in

welfare between services for children under 18 and services for adults over 18. In the field of
medical care, some pediatricians and child psychiatrists operate bylaws t h a t uni form ly referpatients to other hospitals when they turn 18 years old. This has a particularly large impact on
people like those with this syndrome, who often have multiple disabilities and mental illnesses
after adolescence and need seamless support from multiple professions and pediatric and adultservices. The impact of the 18-year old barrier is immeasurable for those individuals and families
who are at a crossroads in th eir lives, whether t o pursue fu rt h e r higher education or to findemployment. It is desirable to have seamless government services and local case managers, but for thetime being, i t would be realistic to focus on realizing seamless support by having doctors,
clinical psychologists, and social workers at medical institutions act as a bridge and holding staff

meetings.

20

7

Family support

7-1. Support for caregivers
Caregivers of children with illnesses or disabilities experience a variety of physical and emotional burdens. 22q11DS is a life-longcondition with changing symptoms that can place a long-term psychological burden on caregivers and cause a wide range of difficulties.
Caregivers of children with 22q11DSexperienceavarietyof psychologicaldifficulties, includingshockatthechild's diagnosis,separationfrom
the child due to treatment, and fear of the child’s death. The amount of care that is regularly imposed on caregivers during the course ofparenting is enormous, and manycaregivers feel overwhelmed bythis. Cardiacdiseases, circulatory symptoms,and frequent infections that are
discovered shortly after birth leave the caregiver with no time to rest and very few opportunities for relaxation. This burden of caretakes
atollonthecaregiver's life.It hasbeenshownthatcaregiversmust limittheirownworkto carefor theirchildrenandtendtoisolatethemselvesfrom
society by devoting their lives to child rearing. Because few professionals in either the medical, educational, or social services have a thoroughunderstandingof 22q11DS,it tendstobetheroleof thecaregiverto communicateand coordinate between support agenciesin order to receive
appropriate support. Theburdenonthecaregiverisfurther increasedwhensupportisnot adequatelyprovided.Thecaregiverfeels overwhelmed
inhisorherroleasasurrogate,educator,andcoordinatorofservices.Theinabilitytocarefor childrenasthecaregiversgetoldisoneofthemostserious
concerns. It is imperative that society bear as much of the role that the caregiver assumes as possible, and that a social system be established tosupport the individual's disability. Thus,it isimportant to notethat theburdenoncaregiversisamplified notonlybydealingwiththesymptoms
presentedbythechild,butalsobythechallengesonthepartofthesystem.
With this understandingof the difficulties experiencedbycaregivers,it isessentialto expandpublic support. On the other hand,of course,

it is also true that there are manycaregivers whospeakpositivelyabout their experiences raising children with 22q11DS. It is most desirable tobuildasystemin whichsociety asawhole supportschildrenlivingwith diversediseases,ratherthan onlythecaregivers.

Caregivers’voices

Every day I worried that if I took my eyes off him, hewould die. When I was left alone with my child by
the nurse, I remembered how I used to spend my timealone.

21

I'm not a messenger pigeon (of doctors in department
A and B). I always thought, "I am the one who needs
help".

My child with 22q11.2 deletion syndrome couldn't
keep up with hisschoolwork at all, sowe , the wholefamily came together tohelp hislearning.

I amworried about mychild’sfuture. I wanther to be able
to live on her own without relying on her siblings. I
always wonderif shewill beabletosurviveonherown.

7-2. Siblings
When a child is ill or disabled, caregivers devote much of their time in life to the child's treatment and care. This issaid to reduce the attention of the caregiver to the "siblings" (Kyodai-Ji). It has been shown that siblings can bejealous for the individual with 22q11DS, but they also know that the illness or disability is not the fault of the caregiveror the individual, so they are more likely to feel guilt and shame about their jealousy. Siblings gradually learn to repress
their feelings and avoid stressful situations, and they rationally accept the diagnosis of illness or disability andits associated limitations. Siblings may also take on a supportive role for their caregivers who devote their time totreatment and care. For this reason, siblings tend to be patient and empathetic. Some siblings are aware of their own
role as caregivers when their caregivers become elderly. Siblings who have learned to behave rationally in theirenvironment may seem at first glance to be living a stress-free life. However, social support must be provided,
paying attention to the development of the sibling himself/herself as well as the individual with the illness or
disability.
Of course, families and siblings feel differently, and not everyone experiences this way. However, it is importantfor supporters to understand that siblings of individual with illnesses or disabilities may have difficulties thatare not well known and difficult to express in words. Support for siblings is still insufficient, and further
development is desired.

Caregivers’voices

I feel that I want my child with 22q11DS to growup on his own, without bothering his siblings.

Siblings’ voices

Somewhere I have the feeling that if something happens
to myparents,I will be responsiblefor it.

Froma youngage, myrole was to support the parents
who were busy takingcare ofmy brother with
22q11DS.

22

22q11DS Special Clinic, The University of Tokyo Hospital
https://22q-pedia.net/ March, 2023

(English translation, September 2024)