The pediatrician and diagnosis of developmental delay

In this study we report the retrospective analysis of a diagnostic work-up, comparing the yield of causal diagnoses in 45 children with developmental delay (DD: intelligence quotient (IQ) 70-80) and 68 with mild mental retardation (MMR IQ 50-70). We also compare associated medical problems in the study population with those found in a mainstream reference population. Results: No differences in diagnostic yield between the two groups were seen. Causal diagnoses were found in 55% of the children in both groups and were equally distributed over hereditary, acquired and familial causes. In 27% genetically and/or clinically defined syndromes were found. In most cases clinical history and multidisciplinary physical examination were crucial for establishing the diagnosis. Associated medical problems are frequent in both groups (35%) and the prevalence of epilepsy, hearing loss, growth retardation and behavioural disorders is higher than in a mainstream reference population. Referral for motor rehabilitation (70%), psychiatric treatment (15%) and genetic counselling (60%) followed the diagnostic process. Conclusion: In this study in one out of two children a cause was found. The yield of causal diagnoses in children with an IQ of 70-80 (DD) was equal to that in children with an IQ of 50-70 (MMR). Associated problems were found more often than in healthy children and caused additional restrictions. A multidisciplinary approach is recommended and should not be restricted to children fitting the definition of mental retardation. A prospective study is needed to evaluate the diagnostic yield with newer genetic and neuroimaging techniques

Aandoeningen van gezichtsvermogen en gehoor

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Validity of the motor observation questionnaire for teachers as a screening instrument for children at risk for developmental coordination disorder

This study investigates validity of the Motor Observation Questionnaire for Teachers (MOQ-T) in 182 children aged 5-10 years, 91 children referred for motor problems to a rehabilitation center and 91 comparison children. Performance on the MOQ-T was compared to performance on the Movement Assessment Battery for Children (M-ABC) and the Developmental Coordination Disorder Questionnaire (DCD-Q). Significant correlations were obtained between the MOQ-T and the DCD-Q (r = -.63), and the MOQ-T and the M-ABC (r =.57). The MOQ-T discriminated between children at risk for DCD and comparison children. Sensitivity of the MOQ-T was 80.5%, specificity 62% with the M-ABC as 'gold standard'. These results support the validity of the MOQ-T as a screening instrument for identification of children at risk for DCD. (c) 2008 Elsevier B.V. All rights reserved

Developmental phenotype in Phelan- McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

Background: Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. Knowledge about developmental and behavioural characteristics of this rare chromosomal disorder is still limited despite a rapid growing number of diagnoses. Our aim was to study a new and relatively large cohort to further characterize the developmental phenotype of children with PMS. Methods: We performed a descriptive study of children with a 22q13.3 deletion including SHANK3, aged 8 to 178 months, who were systematically (n = 34) and longitudinally (n = 29) assessed with standardized instruments: Bayley Scales of Infant and Toddler Development, third edition; Wechsler Preschool and Primary Scale of Intelligence, third edition; and Vineland Screener for Social and Adaptive Behavior. Results: Maximal developmental functioning ranged from 34 to 52 months depending on the developmental domain. In general, children performed poorest in the domain of language and best on the domain of motor (young children) or cognitive development (older children). At the individual level, 25 % scored better for receptive and 18 % for expressive language, whereas 22 % scored better for fine and 33 % for gross motor function. Developmental quotients were higher in younger children and decreased with age for all developmental domains, with 38 % of the children showing no improvement of cognitive developmental functioning. Almost all children (33/34) had significant deficits in adaptive behaviour. Children with very small deletions, covering only the SHANK3, ACR, and RABL2B genes, had a more favourable developmental phenotype. Conclusions: Cognitive, motor, and especially language development were significantly impaired in all children with PMS but also highly variable and unpredictable. In addition, deficits in adaptive behaviour further hampered their cognitive development. Therefore, cognitive and behavioural characteristics should be evaluated and followed in each child with PMS to adapt supportive and therapeutic strategies to individual needs. Further research evaluating the relationship between deletion characteristics and the developmental phenotype is warranted to improve counselling of parents