The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

OBJECTIVE: To examine psychopathology and influence of intelligence level on psychiatric symptoms in children with the 22q11.2 deletion syndrome (22q11DS). METHOD: Sixty patients, ages 9 through 18 years, were evaluated. Assessments followed standard protocols, including structured and semistructured interviews of parents, videotaped psychiatric interview, and intelligence assessment of the child. Intelligence level, psychiatric symptoms, and classification provided the main outcome. RESULTS: High rates of autism spectrum disorders (30 of 60, 50.0%) and psychotic symptoms (16 of 60, 26.7%) were found in this sample. In 7 of 60 (11.7%), the psychotic symptoms interfered with behavior and caused considerable distress. In these cases, the diagnosis of a psychotic disorder was applied. The average age of the children with psychotic symptoms at time of assessment was 14.2 years. Although it is likely that the high rate of psychopathology in this sample is to some extent associated with the lower level of cognitive function, a major effect of the degree of cognitive impairment on psychiatric morbidity was not found. CONCLUSION: Autism spectrum disorders and subthreshold autistic symptomatology are common in children with 22q11DS. Furthermore, a high rate of psychosis and psychotic symptoms is found in this childhood sample, suggesting an early onset of psychosis in 22q11DS patients. Autistic and psychotic disorders should be considered to be main elements of the behavioral phenotype of 22q11DS children.

Risk factors for visual-motor integration and intelligence in children with craniofacial anomalies.

The purpose of this study was to investigate the relation between condition variables and child variables in children with craniofacial anomalies (CFA). Condition variables were brain anomalies, obliterated sutures, syndromic diagnosis, hypertelorism, phenotypical expression, age at craniotomy, and hospitalizations. Child variables were visual-motor integration (VMI), intelligence, and sex of subject. Setting was two university hospitals for children. Patients were 217 children with CFA, 125 boys and 92 girls, aged 5 to 16 years. Main outcome measure was the Developmental Test of VMI. Data on intelligence were obtained using different instruments, depending on the age and developmental level of the child. All IQ tests were standardized with mean 100 and standard deviation 15 or 16. Mean VMI score was 97.9 (SD = 17.1). Only 5.2% of the children scored below 70. For computing the mean IQ score, IQ scores below 50 were fixed at 0 as well as at 50. This procedure yielded a minimum mean IQ score of 94.0 (SD = 27.0) and a maximum mean IQ score of 95.8 (SD = 21.7). An IQ score below 70 was found in 14.1% of the children. A significant correlation was found between VMI and IQ score and the variables brain anomalies, syndromic diagnosis, hypertelorism, phenotypical expression, hospitalizations, and sex of subject. The majority of children with CFA (+/- 85%) score within the normal or borderline range for VMI or intelligence. Approximately 15% of the children with CFA have poor VMI skills or mental retardation. Risk factors for VMI and intelligence are the presence of brain anomalies, a syndromic diagnosis, hypertelorism, a severe phenotypical expression, a high frequency of hospitalizations, and the female sex.

An investigation of the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts.

OBJECTIVE: This research studied the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts. DESIGN: The study was cross-sectional. SETTING: The study was conducted in a university hospital for children. PARTICIPANTS: The sample consisted of 148 children with cleft lip, cleft palate, or both. MAIN OUTCOME MEASURES: The children were assessed by a clinical geneticist at the age of 18 months. The children's level of development was determined by means of the Dutch version of the Bayley Scales of Infant Development. RESULTS: One-third of the total sample had associated malformations. Children with an isolated cleft lip showed the least. Children with an isolated cleft palate showed the highest percentage of minor malformations that are minor yet possibly worrisome. The total group achieved a mean developmental index (DI) on the mental scale of 98.9 with SD of 20.9. The motor scale showed a mean DI of 104.9 and SD of 24.7. Analysis of variance (ANOVA) showed that on the mental scale, the three main effects (diagnosis, evaluation, and sex) were significant at the 5% level. On the motor scale, only the main effect "evaluation" was significant. CONCLUSIONS: This study demonstrated that children with associated congenital malformations might be disadvantaged with respect to their development. These malformations occurred most frequently with the cleft lip and palate and cleft palate only subgroups. More research, especially concerning the cleft palate only subgroup is needed because they are most at risk.

Condition variables in children with craniofacial anomalies: a descriptive study.

The objective of the study is to describe the prevalence of a number of condition variables and their interrelations in children with craniofacial anomalies (CFAs). The participants were 217 children with CFAs (125 boys and 92 girls), aged 5 to 16 years. The medical files and brain imaging provided information on most condition variables except for the variable phenotypical expression, on which information was obtained in a rating experiment. Brain anomalies were present in 77 subjects (36%), absent in 79 subjects (36%), and undefined in 61 subjects (28%). Craniosynostosis occurred in 160 children (74%), a syndromic diagnosis in 108 (50%), and clinical hypertelorism in 72 (33%). The mean phenotypical expression score was 4.8 (SD = 2.1), the mean number of hospitalizations was 6.2 (SD = 5.6), and mean age at craniotomy was 10.9 months (SD = 9.3). Many of the condition variables were significantly interrelated. Brain anomalies occur frequently (36%) in syndromic and nonsyndromic forms of CFAs. The most salient condition variables are the presence of brain anomalies, a syndromic diagnosis, clinical hypertelorism, a severe phenotypical expression, and female gender. Individuals presenting with one or more of these condition variables probably form the most severely affected group and require more treatment.