bluuebunny/crossref_metadata_2025 huggingface dataset:
Is sub‐nutrition necessary for a poor outcome following early institutional deprivation?
Authors: Sonuga‐Barke Edmund J S , Beckett Celia , Kreppner Jana , Castle Jenny , Colvert Emma , Stevens Suzanne , Hawkins Amanda , Rutter Michael
Published: June 2009

Institutional deprivation is multifaceted and includes adverse psychosocial and nutrition‐related components. In this study we partitioned these risks in relation to cognitive impairment and mental ill health, and explored the mediating role of reduced head/brain size. There were 138 participants (61 males, 77 females) in the study. Participants were Romanian adoptees who had experienced at least 2 weeks of early institutional deprivation. The sample was stratified on the basis of duration of deprivation (high risk >6mo in institutions) and sub‐nutrition (i.e. 1.5 SD below UK age‐related norms for weight at UK entry). UK children adopted before 6 months of age and a group of non‐institutionally deprived Romanian children constituted the comparison groups. Duration of deprivation was associated with smaller head circumference, lowered IQ, and increased mental heath problems, independently of effects found for sub‐nutrition on head circumference and IQ. The mediating role of head circumference was limited to either sub‐nourished (IQ) or non‐sub‐nourished (inattention/overactivity and disinhibited attachment) subgroups. Many negative effects of early deprivation, including stunted brain growth, occur without sub‐nutrition: psychosocial deprivation plays a major role in neurodevelopmental effects of deprivation. Further studies of functional and structural neuroanatomy following institutional deprivation are required to delineate the role of brain development in its effects.
Paternal correlates of cognitive and behavioral functioning in children with myelomeningocele
Authors: Wohlfeiler Melissa M , Macias Michelle M , Saylor Conway F
Published: June 2009

This study examined paternal correlates of the cognitive and behavioral functioning of children with myelomeningocele, when controlling for maternal and biological/child correlates as possible sources of variance. Participants were 48 parent dyads of children with myelomeningocele (21 males, 27 females) between the ages of 4 and 12 years (mean 8y, 2mo, SD 2y 3mo). Lesion levels of participants ranged from the thoracic to sacral (thoracic–L3: n=15; L4–L5: n=15; sacral or lipomeningocele: n=18), of whom 38 had been shunted for hydrocephalus. Half of the participants (n=24) were community ambulators. Potential predictors of cognitive and behavioral functioning included paternal and maternal parenting stress, as assessed by the Parenting Stress Index – Short Form paternal, and maternal perceptions of support and resources, as assessed by the Family Resource Scale and the Family Support Scale, and child medical severity. Paternal variables significantly correlated with behavioral functioning but not with cognitive functioning. Regression analyses revealed that paternal personal distress and maternal perceived adequacy of social support accounted for significant variance in overall child behavioral functioning. Only child medical severity and annual household income explained significant variance in overall child cognitive functioning. These findings add to the growing body of theory and research documenting that fathers make unique and significant contributions to child adjustment in children with myelomeningocele. Both fathers and mothers need to be considered in interventions supporting development and adjustment of children with myelomeningocele and their families.
Acute encephalopathy with biphasic seizures and late restricted diffusion on MRI in a Japanese child living in the USA
Authors: Traul David E , Traul Christine S , Matsumoto Julie , Goodkin Howard P
Published: June 2009

We report an 18‐month‐old Japanese female living in the USA whose clinical course and radiographic findings were consistent with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). She was initially diagnosed with complex febrile seizures. However, on day 3 of admission, she had a cluster of complex partial seizures and the onset of a global developmental regression. In contrast to the normal magnetic resonance image of the brain obtained on admission, subsequent imaging demonstrated transient subcortical diffusion‐weighted abnormalities in the white matter of the bilateral posterosuperior frontal, parietal, temporal, and occipital regions, with sparing of the perirolandic area. One year later, her developmental delay, although improved, persisted and she continued to experience sporadic seizures while being treated with topiramate monotherapy. Repeat imaging showed diffuse, poorly defined, increased T2 signals in the white matter of the posterosuperior frontal, parietal, temporal and occipital regions and diffuse cerebral volume loss. Previous reports of AESD have been limited to children aged under 4 years living in Japan. With the identification of this case, it is important that all physicians, not only those in Japan, who care for children with febrile seizures be aware of AESD and its associated neurological morbidity.
Content validity of the expanded and revised Gross Motor Function Classification System
Authors: Palisano Robert J , Rosenbaum Peter , Bartlett Doreen , Livingston Michael H
Published: June 2009

The aim of this study was to validate the expanded and revised Gross Motor Function Classification System (GMFCS‐E&R) for children and youth with cerebral palsy using group consensus methods. Eighteen physical therapists participated in a nominal group technique to evaluate the draft version of a 12‐ to 18‐year age band. Subsequently, 30 health professionals from seven countries participated in a Delphi survey to evaluate the revised 12‐ to 18‐year and 6‐ to 12‐year age bands. Consensus was defined as agreement with a question by at least 80% of participants. After round 3 of the Delphi survey, consensus was achieved for the clarity and accuracy of the descriptions for each level and the distinctions between levels for both the 12‐ to 18‐year and 6‐ to 12‐year age bands. Participants also agreed that the distinction between capability and performance and the concept that environmental and personal factors influence methods of mobility were useful for classification of gross motor function. The results provide evidence of content validity of the GMFCS‐E&R. The GMFCS‐E&R has utility for communication, clinical decision making, databases, registries, and clinical research.
Malignant migrating partial seizures in Aicardi syndrome
Authors: Jocic‐Jakubi Bosanka , Lagae Lieven
Published: June 2009

This article reports on a female infant with Aicardi syndrome presenting with malignant migrating partial seizures from her first day of life. Initially, unilateral tonic seizures were seen with contralateral ictal electroencephalogram findings. Typically, these tonic seizures were accompanied by head and eye deviation and were followed by a tonic seizure on the other side of the body. At 6 months of age she developed epileptic spasms. She showed no motor development, did not respond to eye contact, and was nasogastric tube‐fed. The epilepsy syndrome in this child is refractory to antiepileptic treatment and there is no psychomotor development. This case expands the phenotype of this catastrophic epileptic encephalopathy and suggests that the corpus callosum is not necessary for the ‘migration’ of partial seizures in this syndrome.
Mismatch negativity and frequency representational width in children with specific language impairment
Authors: Ahmmed Ansar U , Clarke Elaine M , Adams Catherine
Published: June 2009

The aim of this study was to compare the degree of frequency separation that is required between tones to generate mismatch negativity (MMN) in a group of children with specific language impairment (SLI) and a comparison group, who had their temporal processing abilities assessed in a previous experiment. Using a 1000Hz standard (85%) and 1020, 1050, and 1100Hz deviant tones presented at inter‐stimulus intervals (ISIs) of 200 and 400ms, MMN was compared in 19 children with SLI (13 males, six females, age range 7y 4mo−11y 10mo, mean age 9y 7mo [SD 1y 2mo]), and 19 comparison children (13 males, six females, age range 7y 3mo−11y 4mo, mean age 9y 5mo [SD 1y 3mo]). Temporal processing ability was assessed by the Auditory Fusion Test‐Revised. Children with SLI who had poor temporal processing abilities generated a positive mismatch response (P‐MMR) for 2% tone contrasts at 400ms ISI but MMN with larger contrasts. These children also generated stronger MMN than the comparison group at 200ms ISI for 2% contrasts. Children with SLI who had good temporal processing abilities generated only P‐MMR in response to contrasts up to 10% for both ISIs. Some children with SLI show an inverse relationship between frequency discrimination and temporal processing. Furthermore, certain stimulus‐related and biological criteria may need to be met for P‐MMR to switch to MMN.
Aromatic l‐amino acid decarboxylase deficiency associated with epilepsy mimicking non‐epileptic involuntary movements
Authors: Ito Susumu , Nakayama Tomohiro , Ide Shuhei , Ito Yasushi , Oguni Hirokazu , Goto Yu‐ichi , Osawa Makiko
Published: June 2009

Aromatic l‐amino acid decarboxylase (AADC) deficiency is a rare inborn error of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and autonomic dysfunction. We report the case of an 11‐year‐old male patient with AADC deficiency who also had epileptic spasms and generalized tonic seizures with asymmetrical features, in addition to frequent involuntary non‐epileptic movements. The clinical manifestation of the epileptic attacks apparently resembled that of non‐epileptic attacks. It was difficult to differentiate between both attacks without the help of an ictal electroencephalographic study. The epileptic attacks were finally controlled by appropriate antiepileptic drugs. Because an association with epileptic seizures is uncommon in AADC deficiency, some cases may have been regarded as involuntary non‐epileptic movements. This indicates that the differentiation of epileptic attacks from non‐epileptic ones is indispensable for the adequate treatment of patients with AADC deficiency.
Sensory modulation disorder: a risk factor for participation in daily life activities
Authors: Bar‐Shalita Tami , Vatine Jean‐Jacques , Parush Shula
Published: June 2009

Participation in childhood daily functional performance was examined in 78 children: 44 with sensory modulation disorder (SMD); (33 males, 11 females; mean age 7y 6mo [SD 1.20]) and 34 without SMD (18 males, 16 females; mean age 7y 8mo [SD 1.33]). Group classification was determined using two measures: the Short Sensory Profile (SSP) and the Full‐form Sensory Profile. Parents completed a battery of caregiver questionnaires. Children with SMD scored significantly lower on all three participation scales than the control group. A high correlation was observed between level of activity performance of the Participation in Childhood Occupations Questionnaire (PICO‐Q) and the SSP, and a moderate correlation was observed between the Enjoyment of Performance of the PICO‐Q and the SSP. A low correlation was observed between Frequency of Performance of the PICO‐Q and the SSP. Logistic regression indicated that all three participation scales (level of activity performance, level of enjoyment of the activity, and frequency of performance of the activity) are significantly associated with group classification, with odds ratios of 3.13, 2.05, and 1.73 respectively. These findings are the first, to our knowledge, to confirm claims of limited participation in daily activities among children with SMD. Our results have significant clinical implications and provide support for the need for practitioners and caregivers of children with SMD to facilitate participation.
Self‐concept in children with spina bifida compared with typically developing children
Authors: Shields Nora , Taylor Nicholas F , Dodd Karen J
Published: June 2009

The literature was systematically reviewed to determine if children with spina bifida have lower self‐concept compared with their peers with typical development. Relevant trials were identified by searching electronic databases, supplemented by citation tracking. Of 803 papers initially identified, 15 met the inclusion criteria. Meta‐analysis revealed children with spina bifida scored significantly lower than children with typical development for the domains of global self‐worth (d=−0.39, 95% confidence interval [CI] −0.65 to −0.12); physical appearance (d=−0.26, 95% CI −0.46 to −0.06); athletic competence (d=−0.45, 95% CI −0.67 to −0.22); social acceptance (d=−0.33, 95% CI −0.55 to −0.11); and scholastic competence (d=−0.43, 95% CI −0.66 to −0.21). There was no difference between the groups for the behavioural conduct domain. Children with spina bifida on average have a lower self‐concept than their peers with typical development. Clinicians need to take account of this information in planning the assessment and treatment of this group.
Congenital hypotonia: clinical and developmental assessment
Authors: Harris Susan R
Published: June 2009

Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). This is especially important in infants with idiopathic hypotonia. This review outlines and describes the components of the clinical assessment: detailed infant and family history, clinical techniques and characteristics for differentiating hypotonia of central versus peripheral origin, and clinical evaluation (muscle tone, primitive reflexes, deep tendon reflexes, etc). Recent research that has contributed to the differential diagnosis of congenital hypotonia is reviewed and directions for future research are provided. Ideally, the assessment of infants with congenital hypotonia is best accomplished by an interdisciplinary team of developmental specialists including pediatricians, medical geneticists, child neurologists, and physical or occupational therapists.
Levetiracetam in absence epilepsy
Authors: Verrotti Alberto , Cerminara Caterina , Domizio Sergio , Mohn Angelika , Franzoni Emilio , Coppola Giangennaro , Zamponi Nelia , Parisi Pasquale , Iannetti Paola , Curatolo Paolo
Published: June 2009

The aim of the study was to assess the efficacy, tolerability, and safety of levetiracetam therapy in children and adolescents with absence epilepsy. Twenty‐one participants (11 male, 10 female) with typical absence seizures were enrolled in this prospective study from seven centres in Italy. The mean age and age range at time of enrolment into the study were 8 years 9 months (SD 0.9) and 5 years 1 month to 13 years respectively. All patients were carefully evaluated at 6 months from baseline, and 12 patients were also re‐evaluated at 12 months after the beginning of therapy with levetiracetam. At the 6‐month evaluation, out of 21 patients studied, 11 were seizure free and one showed ‘decreased’ seizures (more than 50% reduction in seizures). A less than 50% reduction in seizures was observed in nine patients. At the 12‐month evaluation, 10 patients were completely seizure free and two were seizure free with some anomalies in electroencephalograms. Two patients who had shown no improvement at 6 months had decreased seizures at the second follow‐up. Our results suggest that monotherapy with levetiracetam could be effective and well tolerated in patients with childhood absence epilepsy and juvenile absence epilepsy. Prospective, large, long‐term double‐blind studies are needed to confirm these findings.
Bone mineral density in children with myelomeningocele
Authors: APKON SUSAN D , FENTON LAURA , COLL JOSEPH R
Published: June 2009

The aim of the present study was to document bone mineral density (BMD) in children with myelomeningocele and to identify variables that contribute to reduced BMD. The study included 24 children with myelomeningocele (nine males, 15 females; age range 4–18y), who had varied levels of neurological impairment (thoracic/high‐lumbar, n=6; mid‐lumbar, n=9; sacral, n=9) and ambulatory status (non‐ambulators, n=12; part‐time ambulators n=2; full‐time ambulators, n=10). BMD measurements of the femoral neck and whole body using dual energy X‐ray absorptiometry assessments of dietary calcium intake, and serum markers of bone metabolism were obtained. BMD is presented as standardized scores (z‐scores) which are age‐ and sex‐matched to normally developing children. The mean femoral‐neck z‐score was −2.41. Femoral‐neck z‐scores differed significantly according to ambulatory status, with lower z‐scores in children who were wheelchair‐dependent (p=0.03). The mean z‐score at the femoral neck demonstrated a trend toward lower z‐scores in children with higher levels of lesions. Almost all children met their recommended daily intake of calcium. Markers of bone metabolism were normal in all patients. This study demonstrates that reduced BMD is a major complication in children with myelomeningocele. There is a significant relationship with low BMD in children who are wheelchair‐dependent, a trend in those with higher neurological levels, and no relationship between fractures and reduced BMD.
Tactile sensory abilities in cerebral palsy: deficits in roughness and object discrimination
Authors: Wingert Jason R , Burton Harold , Sinclair Robert J , Brunstrom Janice E , Damiano Diane L
Published: June 2009

Motor deficits in cerebral palsy (CP) have been well documented; however, associated sensory impairment in CP remains poorly understood. We examined tactile object recognition in the hands using geometric shapes, common objects, and capital letters. Discrimination of tactile roughness was tested using paired horizontal gratings of varied groove widths passively translated across the index finger. We tested 17 individuals with hemiplegia (mean 13y 9mo [SD 5y 2mo]; 6 males, 11 females), 21 with diplegia (mean 14y 10mo [SD 7y]; 10 males, 11 females), and 21 without disabilities (mean 14y 10mo [SD 5y 1mo]; 11 males, 10 females). All participants with CP fell within level I or II of the Gross Motor Function Classification System and level I or II of the Manual Abilities Classification System. Individuals with CP were significantly less accurate compared with those without disabilities on all tactile object‐recognition tasks using their non‐dominant hand. Both groups of patients also had significantly higher thresholds for groove‐width differences with both hands compared with those without disabilities. Within the group with diplegia, only roughness discrimination differed between hands, whereas within the group with hemiplegia, significant between‐limb differences were present for all tasks. Despite mild motor deficits compared with the entire population of individuals with CP, this sample demonstrated ubiquitous tactile deficits.
Visual function in infants with brain lesions (1994)
Authors: Mercuri Eugenio
Published: June 2009

Another in our series of commentaries on notable papers from the DMCN archives. The full paper is available at http://www.mackeith.co.uk

Pike MG, Holmstrom G, de Vries LS, Pennock JM, Drew KJ, Sonksen PM, Dubowitz LM. Patterns of visual impairment associated with lesions of the preterm infant brain. Dev Med Child Neurol 1994; 36: 849–62.
Waiting for child developmental and rehabilitation services: an overview of issues and needs
Authors: Miller Anton R , Armstrong Robert W , Mâsse Louise C , Klassen Anne F , Shen Jane , O’Donnell Maureen E
Published: June 2009

Concern about the length of time that children, young people, and families may have to wait to access assessment, diagnostic, interventional, therapeutic, and supportive child developmental and rehabilitation (CDR) services is widespread, but adequate data collection and research on this issue remain limited. We review key concepts and issues relevant to waiting for CDR services from the published literature, a national workshop devoted to this topic, and international experience. We conclude that gaps in data, evidence, and consensus challenge our ability to address the issue of waiting for CDR services in a systematic way. A program of research coupled with actions based on consensus‐building is required. Research priorities include acquiring evidence of the appropriateness and effectiveness of different models of intervention and rehabilitation services, and documenting the experience and expectations of waiting families. Consensus‐building processes are critical to identify, categorize, and prioritize ‘sentinel’ components of CDR service pathways: (1) to reduce the inherent complexity of the field; (2) to create benchmarks for waiting for these respective services; and (3) to develop definitions for wait‐time subcomponents in CDR services. Collection of accurate and replicable data on wait times for CDR services can be used to document baseline realities, to monitor and improve system performance, and to conduct comparative and analytic research in the field of CDR services.
Neurological aspects of hyperinsulinism–hyperammonaemia syndrome
Authors: Bahi‐Buisson Nadia , Roze Emmanuel , Dionisi Carlo , Escande Fabienne , Valayannopoulos Vassili , Feillet François , Heinrichs Claudine
Published: June 2009

Hyperinsulinism–hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype–genotype correlations. We retrospectively analyzed the neurological outcomes of 22 consecutive patients (12 males, 10 females) aged from 18 months to 40 years and diagnosed with HHS. We analyzed demographic and clinical features and neuroradiological, biochemical, and genetic findings. Fourteen patients had childhood‐onset epilepsy. Learning disability* was found in 17 patients. Two patients had pyramidal involvement and one had generalized dystonia. Seizures were observed in 11 of 19 patients with documented GLUD1 mutations, and nine of these 11 patients had a mutation in the guanosine triphosphate (GTP) binding site. Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy.
Transition to adulthood: validation of the Rotterdam Transition Profile for young adults with cerebral palsy and normal intelligence
Authors: DONKERVOORT MIREILLE , WIEGERINK DIANA J H G , VAN MEETEREN JETTY , STAM HENK J , ROEBROECK MARIJ E ,   TRANSITION RESEARCH GROUP SOUTH WEST NETHERLANDS
Published: June 2009

The aim of this study was to investigate the validity of the Rotterdam Transition Profile (RTP) to describe the transition process from childhood to adulthood in young adults with cerebral palsy (CP). Participants were recruited from rehabilitation centres and hospital departments of rehabilitation. In total, 81 young adults (47 males, 34 females) with CP and normal intelligence participated (mean age 20y 5mo [SD 1y 4mo] range 18−22y; 95% spastic CP, 48% hemiplegia, 38% diplegia, 14% quadriplegia; 78% Gross Motor Function Classification System Level I, 83% Manual Ability Classification System Level I). The RTP and the Assessment of Life Habits questionnaire are used to measure transition and functioning in daily activities and participation. Almost all participants were in the transition process or had reached an independent adult lifestyle (ranging from 60−100%, housing 42%). Compared with able‐bodied peers, young adults with CP lagged behind in their development in housing (25 vs 36%; p<0.05), employment (33 vs 49%; p<0.05), and intimate relationships (37 vs 76%; p<0.01). Associations were found between the phase of transition and age, parents’ level of education, gross motor functioning, manual ability, level of education, and level of functioning in daily activities and participation. The RTP is a valid tool to gain more insight into the transition process, at the individual as well as at group level.
Use of the GMFCS in infants with CP: the need for reclassification at age 2 years or older
Authors: GORTER JAN WILLEM , KETELAAR MARJOLIJN , ROSENBAUM PETER , HELDERS PAUL JM , PALISANO ROBERT
Published: June 2009

The stability of the Gross Motor Function Classification System (GMFCS) over time is described in 77 infants (41 boys, 36 girls) with cerebral palsy (CP; mean age 19.4mo [SD 1.6 mo]; 27 unilateral spastic, 42 bilateral spastic, eight dyskinetic type) and in the same children at follow‐up at age 2 to 4 years. The overall level of agreement over time (linear weighted kappa) was 0.70 (95% confidence interval [CI] 0.61−0.79). The overall percentage of children whose GMFCS level changed one or two levels was 42%, of which the majority were reclassified to a less functional level (McNemar’s Chi2 test p=0.11). The chance that children initially classified in the combination of GMFCS Levels I, II, and III would subsequently be classified in the same level in early childhood was 96% (positive predictive value [PPV] 0.96, 95% CI 0.85−0.99), whereas the PPV for the combination of Levels I and II was 0.88, 95% CI 0.70−0.96. These findings indicate that GMFCS classification in infants is less precise than classification over time in older children. In conclusion, children can be classified by the GMFCS early on, but there is a need for reclassification at age 2 or older as more clinical information becomes available.
Do patients with congenital hemiparesis and ipsilateral corticospinal projections respond differently to constraint‐induced movement therapy?
Authors: Kuhnke N , Juenger H , Walther M , Berweck S , Mall V , Staudt M
Published: June 2009

This study investigates whether the type of corticospinal reorganization (identified by transcranial magnetic stimulation) influences the efficacy of constraint‐induced movement therapy (CIMT). Nine patients (five males, four females; mean age 16y [SD 6y 5mo], range 11–30y) controlling their paretic hand via ipsilateral corticospinal projections from the contralesional hemisphere and seven patients (three males, four females; mean age 17y [SD 7y], range 10–30y) with preserved crossed corticospinal projections from the affected hemisphere to the paretic hand underwent 12 consecutive days of CIMT. A Wolf motor function test applied before and after CIMT revealed a significant improvement in the quality of upper extremity movements in both groups. Only in patients with preserved crossed projections, however, was this amelioration accompanied by a significant gain in speed, whereas patients with ipsilateral projections tended to show speed reduction. These data, although preliminary, suggest that patients with congenital hemiparesis and ipsilateral corticospinal projections respond differently to CIMT.
Comparison of the Melbourne Assessment of Unilateral Upper Limb Function and the Quality of Upper Extremity Skills Test in hemiplegic CP
Authors: Klingels K , De Cock P , Desloovere K , Huenaerts C , Molenaers G , Van Nuland I , Huysmans A , Feys H
Published: June 2009

This study investigated interrater reliability and measurement error of the Melbourne Assessment of Unilateral Upper Limb Function (Melbourne Assessment) and the Quality of Upper Extremity Skills Test (QUEST), and assessed the relationship between both scales in 21 children (15 females, six males; mean age 6y 4mo [SD 1y 3mo], range 5–8y) with hemiplegic CP. Two raters scored the videotapes of the assessments independently in a randomized order. According to the House Classification, three participants were classified as level 1, one participant as level 3, eight as level 4, three as level 5, one participant as level 6, and five as level 7. The Melbourne Assessment and the QUEST showed high interrater reliability (intraclass correlation 0.97 for Melbourne Assessment; 0.96 for QUEST total score; 0.96 for QUEST hemiplegic side). The standard error of measurement and the smallest detectable difference was 3.2% and 8.9% for the Melbourne Assessment and 5.0% and 13.8% for the QUEST score on the hemiplegic side. Correlation analysis indicated that different dimensions of upper limb function are addressed in both scales.
Magnetic resonance imaging findings in a population‐based cohort of children with cerebral palsy
Authors: ROBINSON MARNIE N , PEAKE LYNDAL J , DITCHFIELD MICHAEL R , REID SUSAN M , LANIGAN ANNA , REDDIHOUGH DINAH S
Published: June 2009

The purpose of this study was to investigate the frequency and spectrum of magnetic resonance imaging (MRI) abnormalities in a population of children with cerebral palsy (CP) who were born in the years 2000 and 2001 in Victoria, Australia. In 2000 and 2001, 221 children (126 males, 95 females; mean age 6y [SD 7mo], range 5–7y) with CP, excluding those with CP due to postneonatal causes (6% of all cases), were identified through the Victorian Cerebral Palsy Register. All medical records were systematically reviewed and all available brain imaging was comprehensively evaluated by a single senior MRI radiologist. MRI was available for 154 (70%) individuals and abnormalities were identified in 129 (84%). The study group comprised 88% with a spastic motor type CP; the distribution was hemiplegia in 33.5%, diplegia in 28.5%, and quadriplegia in 37.6% of children. Overall, pathological findings were most likely to be identified in children with spastic hemiplegia (92%) and spastic quadriplegia (84%). Abnormalities were less likely to be identified in non‐spastic motor types (72%) and spastic diplegia (52%). The most common abnormalities identified on MRI were periventricular white matter injury (31%), focal ischaemic/haemorrhagic lesions (16%), diffuse encephalopathy (14%), and brain malformations (12%). Dual findings were seen in 3% of patients. This is the first study to document comprehensively the neuroimaging findings of all children identified with CP born over a consecutive 24‐month period in a large geographical area.
Description of children identified by physicians as having developmental coordination disorder
Authors: Missiuna Cheryl , Gaines Robin , Mclean Jennifer , DeLaat Denise , Egan Mary , Soucie Helen
Published: June 2009

The aim of this study was to describe in detail a large group of children aged 4 to 12 years who were diagnosed with developmental coordination disorder (DCD) by physicians following a rigorous multidisciplinary procedure. As part of a community‐based DCD knowledge translation program, physicians received specialized training and were invited to identify children with probable DCD who were referred for further investigation to help confirm the diagnosis. Of 116 children (87 males, 29 females; age range 4y 1mo ‐ 12y 11mo, mean age 8y) identified as having probable DCD by physician participants, 88 (76%) were subsequently diagnosed with DCD and 77.3% of these demonstrated a high degree of motor impairment. All children who were diagnosed experienced difficulties in self‐care and/or academic or leisure activities. The male:female ratio was 3:1 and the incidence of preterm births among this sample was 12.5%. We conclude that, given the expense involved with ruling out differential diagnoses, it can be difficult to adhere rigorously to diagnostic criteria for DCD in clinical practice and research. This description of a group of children actually diagnosed with DCD helps to clarify the characteristics of these children as well as issues related to the refinement of diagnostic criteria.
Validity and reliability of the guidelines of the Surveillance of Cerebral Palsy in Europe for the classification of cerebral palsy
Authors: Gainsborough Mary , Surman Geraldine , Maestri Giovanna , Colver Allan , Cans Christine ,   on behalf of the Surveillance of Cerebral Palsy in Europe collaborative group.
Published: June 2009

The validity and reliability of the guidelines of the Surveillance of Cerebral Palsy in Europe (SCPE) for the classification of cerebral palsy (CP) were tested by administering 10 written case vignettes via an interactive web‐based link to 30 SCPE partners. There was a moderately good level of agreement (κ=0.59) about inclusion as a CP case on the SCPE database. Classification by CP subtype differed in two main areas: assigning spastic versus dyskinetic and judgement of distribution of spastic involvement. Agreement on Gross Motor Function Classification System (GMFCS) level was less good than reported in previous studies. Twenty respondents repeated the test 5 months later and there was good repeatability for case inclusion (κ= 0.72) but considerable variation in assignment of CP subtype and GMFCS level. There is a need for further collaborative work and training to improve harmonization of the classification of CP, including examination, application of SCPE guidelines, and register coding.
Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well‐being
Authors: HARTSHORNE TIMOTHY S , HEUSSLER HELEN S , DAILOR A NICHOLE , WILLIAMS GEORGE L , PAPADOPOULOS DIMITRIOS , BRANDT KIMBERLY K
Published: June 2009

Children with CHARGE syndrome frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive–compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Anecdotal reports have indicated that sleep is also affected. However, the prevalence and types of sleep disturbance have not been identified. This study investigated sleep disturbances in 87 children with CHARGE syndrome, aged 6 to 18 years (mean 11y, SD 3y 8mo). There were 52 males and 35 females represented. Instruments included measures of sleep (Sleep Disturbances Scale for Children [SDSC]), behavior (Developmental Behaviour Checklist [DBC]), and carer well‐being (Malaise Inventory). On the SDSC, 57.5% received scores considered significant for sleep disturbances, with disorders of initiating and maintaining sleep, sleep breathing, and sleep–wake transition being the most common. The SDSC was significantly correlated with the DBC (p=0.010) and the Malaise Inventory (p=0.003). Regression analysis found that both problem behavior and sleep disturbances contributed to the prediction of scores on the Malaise Inventory. Being both deaf and blind (p=0.001), experiencing frequent middle‐ear infections (p=0.015), and starting to walk at an older age (p=0.007) were associated with more sleep disturbance. Craniofacial anomalies were not. The study highlights the importance of addressing the sleep difficulties associated with CHARGE syndrome relating both to airway management and to disorders of initiating sleep.
Okamoto syndrome in a girl of Caucasian origin
Authors: Markouri Margharita , Karpathios Themistokles , Dinopoulos Argirios , Attilakos Achilleas , Fretzayas Andrew , Bakoula Chryssa , Kitsiou‐Tzeli Sophia
Published: June 2009

We report the clinical and genetic evaluation of a 2‐year‐old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital hydronephrosis, and congenital heart defects. Routine chromosome testing and whole‐genome high‐resolution comparative genetic hybridization analysis were negative for any gross numerical or structural chromosome aberrations and for microdeletions/duplications of more than 3 million base pairs respectively. Fluorescence in situ hybridization analysis for 22q11.2 deletion and DNA analysis of the protein tyrosine phosphatase, non‐receptor type II gene were normal, thus excluding DiGeorge and Noonan syndromes. Our patient did not show most of the cardinal features of Schinzel–Giedion, otopalatodigital, and C‐trigonocephaly syndromes. Moreover, in our patient some new malformations were identified: unilateral kidney hypoplasia and severe anal stenosis. The latter was considered as pertinent and is described here to establish a wider clinical spectrum of Okamoto syndrome. At the age of 3 years 6 months the child continues to show severe growth failure and significant global developmental delay. For the practising paediatrician it is prudent to bear Okamoto syndrome in mind, especially in children with learning disability and a pattern of dysmorphic features.
‘Is my child developing normally?’: a critical review of web‐based resources for parents
Authors: Williams Nia , Mughal Sabena , Blair Mitch
Published: June 2009

Early detection of developmental problems improves outcomes for parents and children. Parents want to be involved in assessment and need high‐quality, accurate, and reliable data on child development to help monitor progress and inform decisions on referral. The aim of this paper is to review which websites are readily accessible to parents on child development and to assess their quality. An internet search (on Google and Yahoo) was conducted using the search terms ‘child development’, ‘parenting’, and ‘developmental milestones’. Criteria were agreed for evaluating web‐based resources, adapted from and based on previously reported methods. Data were collected on site content, diagrams and layout, readability (Flesch Reading Ease Scale), design, navigability, overall design, and interactive features. Forty‐four relevant websites were identified for further analysis: six government, three university, 15 health‐care professional, four American Academy of Pediatrics, 10 by journalists, and six undisclosed. The best websites are presented, with justification for their choice. Overall, information available for parents about child development is accurate but much of it is incomplete, unclear, or difficult to access. There is a need to develop an easily accessible, clear, and authoritative resource for parents with illustrations. Focus groups are being held to inform this research further.
Continuous postural management and the prevention of deformity in children with cerebral palsy: an appraisal
Authors: GOUGH MARTIN
Published: June 2009

Continuous postural management programmes are commonly used for children with cerebral palsy (CP) in Gross Motor Function Classification System levels IV and V, with the aim of preventing musculoskeletal deformity. There is a lack of evidence to support their use in this capacity and a possibility that children with CP who are most likely to develop deformity may be least able to comply with a continuous postural management programme. The implications for the child and family of such a programme in terms of increased demands and potential discomfort are discussed within the framework of the International Classification of Functioning, Disability and Health. A shift in focus in the use of postural management from an emphasis on body structure towards the environment and participation of the child with CP is suggested.
Cerebral palsy and newborn care: I, II, and III (1981)
Authors: Stanley Fiona
Published: June 2009

Another in our series of commentaries on notable papers from the DMCN archives. The full papers are available at http://www.mackeith.co.uk

Kiely JL, Paneth N, Stein Z, Susser M. Cerebral palsy and newborn care. I: Secular trends in cerebral palsy. Dev Med Child Neurol 1981; 23: 533–38. Kiely JL, Paneth N, Stein Z, Susser M. Cerebral palsy and newborn care. II: Mortality and neurological impairment in low‐birthweight infants. Dev Med Child Neurol 1981; 23: 650–59. Kiely JL, Paneth N, Stein Z, Susser M. Cerebral palsy and newborn care. III: Estimated prevalence rates of cerebral palsy under differing rates of mortality and impairment of low‐birthweight infants. Dev Med Child Neurol 1981; 23: 801–07.
Treatment of alternating hemiplegia of childhood with aripiprazole
Authors: HAFFEJEE SHEREEN , SANTOSH PARAMALA J
Published: June 2009

We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14‐year‐old female with an established diagnosis. Although the patient’s symptoms are consistent with those of the condition, she did not respond to treatment with haloperidol, flunarizine, or propranolol. Treatment with aripiprazole resulted in a reduction in the frequency, duration, and severity of episodes of alternating hemiplegia, along with other therapeutic benefits. After treatment with aripiprazole was started, the patient was inadvertently given an inactive drug, resulting in a worsening of her hemiplegic episodes, which improved again on rechallenge. A comparison of the pharmacological actions of successful and unsuccessful treatments for AHC is made. Modulation of both dopamine and histamine systems together appears to be important in the treatment of AHC and further investigation of such pharmacotherapies is suggested.
Local intra‐arterial thrombolysis in a 4‐year‐old male with vertebrobasilar artery thrombosis
Authors: JANMAAT MIRJAM , GRAVENDEEL JOOST P , UYTTENBOOGAART MAARTEN , VROOMEN PATRICK C , BROUWER OEBELE F , LUIJCKX GERT‐JAN
Published: June 2009

We report the case of a 4‐year‐old male with vertebrobasilar artery thrombosis for which he was treated with local intra‐arterial urokinase 60 hours after onset of symptoms. Initially the patient had dysarthria and dysphagia. Brain magnetic resonance imaging (MRI) in a community hospital showed abnormalities in the pons, and vertebrobasilar artery thrombosis was suspected. The patient was transferred to the university hospital because of neurological deterioration. Just before thrombolysis, his physical examination revealed a downward ocular deviation, stretching of the arms, and spontaneous movements of the legs. Brain MRI showed recent ischaemia in the pons and caudal part of the mesencephalon, and magnetic resonance angiography showed occlusion of the basilar artery. Intra‐arterial thrombolysis with urokinase (total dose 36 000U/kg) was performed 60 hours after onset of symptoms. After thrombolysis he was treated with heparin for 10 days, followed by aspirin. The patient recovered well. After 1 year he had only minor ataxia and performed all activities at school. Local vasculitis due to an infection with Borrelia burgdorferi was thought to be the cause of the local thrombosis. A review of the literature revealed 11 other case reports of successful local intra‐arterial thrombolysis in children and adolescents with ischaemic stroke. This suggests that intra‐arterial thrombolysis is feasible and safe in selected paediatric patients with ischaemic stroke.
The stability of error‐related brain activity with increasing trials
Authors: Olvet Doreen M. , Hajcak Greg
Published: June 2009

The error‐related negativity (ERN) and error positivity (Pe) are increasingly being examined as neural correlates of response monitoring. The minimum number of error trials included in grand averages varies across studies; indeed, there has not been a systematic investigation on the number of trials required to obtain a stable ERN and Pe. In the current study, the ERN and Pe were quantified as two random trials were added to participants' (N=53) ERP averages. Adding trials increased the correlation with the grand average ERN and Pe; however, high correlations (rs>.80) were obtained with only 6 trials. Internal reliability of the ERN and Pe reached moderate levels after 6 and 2 trials and the signal‐to‐noise ratio of the ERN and Pe did not change after 8 and 4 trials, respectively. Combined, these data suggest that the ERN and Pe can be quantified using a minimum of between 6 and 8 error trials.
Review of research related to Kristen Swanson’s middle‐range theory of caring
Authors: Andershed Birgitta , Olsson Kristina
Published: June 2009

The aim of this study was to identify and describe how Kristen Swanson’s middle‐range theory has been used in nursing practice/research presented in international journals. A total of 120 studies were included in the review and 23 were analysed further. An overview of the studies is presented, followed by four categories of how the theory has been used: referring to the theory (97 papers), applications of the theory to practice/research and/or theoretical discussions (nine papers), relating findings to and/or validation of the theory (eight papers), and development of measurements from and/or testing of the theory (six papers). The use of the theory and conclusions of the studies related to criteria for evaluation of theories were discussed.
Nurse strategies for optimising patient participation in nursing care
Authors: Sahlsten Monika J. M. , Larsson Inga E. , Sjöström Björn , Plos Kaety A. E.
Published: June 2009

The study’s rationale:  Patient participation is an essential factor in nursing care and medical treatment and a legal right in many countries. Despite this, patients have experienced insufficient participation, inattention and neglect regarding their problems and may respond with dependence, passivity or taciturnity. Accordingly, nurses strategies for optimising patient participation in nursing care is an important question for the nursing profession.

Aim and objective:  The aim was to explore Registered Nurses’ strategies to stimulate and optimise patient participation in nursing care. The objective was to identify ward nurses’ supporting practices.

Methodological design and justification:  A qualitative research approach was applied. Three focus groups with experienced Registered Nurses providing inpatient somatic care (n = 16) were carried out. These nurses were recruited from three hospitals in West Sweden. The data were analysed using content analysis technique.

Ethical issues and approval:  The ethics of scientific work was adhered to. According to national Swedish legislation, no formal permit from an ethics committee was required. The participants gave informed consent after verbal and written information.

Results:  Nurse strategies for optimising patient participation in nursing care were identified as three categories: ‘Building close co‐operation’, ‘Getting to know the person’ and ‘Reinforcing self‐care capacity’ and their 10 subcategories.

Conclusions:  The strategies point to a process of emancipation of the patient’s potential by finding his/her own inherent knowledge, values, motivation and goals and linking these to actions. Nurses need to strive for guiding the patient towards attaining meaningful experiences, discoveries, learning and development. The strategies are important and useful to balance the asymmetry in the nurse–patient relationship in daily nursing practice and also in quality assurance to evaluate and improve patient participation and in education. However, further verification of the findings is recommended by means of replication or other studies in different clinical settings.