Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.

[Dimensional approach of social behaviour deficits in children. Preliminary validation study of the French version of the Children's Social Behaviour Questionnaire (CSBQ)]. / Approche dimensionnelle des troubles des comportements sociaux chez l'enfant. Etude préliminaire de validation de la version française du Children's Social Behavior Questionnaire (CSBQ).

UNLABELLED: Social deficit is the core symptom of pervasive developmental disorder. In other child psychiatric disorders, social problems are also described but mainly as a result of the disease symptomatology. However, some recent studies suspect that in several disorders such as attention deficit hyperactive disorder, patients have an endogenous social disturbance. The aim of our research was to study abnormal child social behaviour in several disorders, using a dimensional approach. It is a preliminary validation study of the French version of the Children's Social Behaviour Questionnaire, a dimensional instrument constructed by Luteijn, Minderaa et al. METHODOLOGY: Five clinical groups, according to the DSM IV criteria, formed a population of 103 children aged 6 to 16 years old: autistic disorder, attention deficit hyperactive disorder (ADHD), emotional disorder (anxious, depressed), mental retardation and normal children. Parents completed the Child Behaviour Checklist (CBCL) and the Children's Social Behaviour Questionnaire (CSBQ). The research worker and the child's physician completed a data form. The data form included information about medical history, development and socio-demographic criteria. The CBCL explored children's behaviours and general psychopathology, and included social dimensions (withdrawn, social problems, aggressive/delinquent behaviours, thought problems). The CSBQ, a dimensional questionnaire, explored children's social behaviours and included five dimensions: <>, <>, <>, <>, <>. The English version of the CSBQ, validated with in the Netherlands Dutch population was translated into French and the translation was validated (double back translation). As the CBCL and CSBQ questionnaires are both dimensional instruments, dimensions have been compared. All instrument results were analysed separately; correlations and comparisons were made between groups. RESULTS: Correlations between CSBQ and CBCL dimensions are consistent. Positive correlations exist for: <> dimension with <>, <> and <>; <> with <> and <>; <> with <> and <>; <> with <>, <> and <>; social stereotypes>> with <>. Mean CSBQ results are as follows: 1. autistic group has the highest score for the <> dimension, ADHD group has the highest score for the <> dimension, mental retardation group has the highest score for the <> dimension. 2. comparisons between groups shows: significant difference between the autistic and ADHD groups for <> and <> but not for <> and <>; between the autistic and mental retardation groups, there is a significant difference for <> but not for the other dimensions; between the ADHD and mental retardation groups, there is a significant difference only for <>; there is no significant difference between the ADHD and emotional groups; control group has very low scores. CBCL results are: abnormal scores in all groups except normal control group, for <> and <>; abnormal scores in the autistic and emotional groups for <>, <> and <>; abnormal scores in the ADHD group for <>, <> and <>; the <> score is borderline. DISCUSSION: Social behaviour profiles are different and characteristic for each disorder. However, social symptoms are not specific for one disorder and common social signs do exist between different disorders. Our results are concordant with the Luteijn study and literature data. The results support the hypothesis of a dimensional pathogenesis in social behaviour disturbance. We discuss the benefit of a dimensional approach to complete the categorical one. The Children's Social Behaviour Questionnaire seems to be an interesting instrument to explore social behaviour disturbances in several child disorders.

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

Autism is a rare neurodevelopmental disorder with a strong genetic component. Co-occurrence of autism and chromosomal abnormalities is useful to localize candidate regions that may include gene(s) implicated in autism determinism. Several candidate chromosomal regions are known, but association of chromosome 22 abnormalities with autism is unusual. We report a child with autistic syndrome and a de novo 22q13.3 cryptic deletion detected by FISH. Previously described cases with 22q13.3 deletions shared characteristic developmental and speech delay, but autism was not specifically reported. This case emphasizes a new candidate region that may bear a gene involved in autism etiopathogenesis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:839-844, 2000.