The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.

Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborated with a Facebook group to collect data on individuals worldwide. Here we describe a cohort of 20 newly identified individuals and 25 literature cases with a proximal 6q deletion.

How reliable and valid is the teacher version of the Strengths and Difficulties Questionnaire in primary school children?

Introduction: The Strengths and Difficulties Questionnaire (SDQ) is validated for parents, but not yet for teachers in a broad age range of children. We conducted a cross-sectional study with 4-10 years old school children to investigate if the SDQ-T can be used instead of the validated but lengthy Teacher's Report Form (TRF) to acquire information about emotional and behavioral problems in the school community.

Methods: Teachers of 453 children from primary schools were approached.

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.

Identification of emotional and behavioral problems by teachers in children with developmental coordination disorder in the school community.

Current evidence on the co-occurrence of Developmental Coordination Disorder (DCD) and psychosocial problems mainly concerns parent-reported information, but rarely includes teacher information. The aim of this study was (1) to investigate the teachers' identification of emotional and behavioral problems in children with DCD and (2) to examine the performance of the teacher version of the Strengths and Difficulties Questionnaire (SDQ-T) compared with the Teacher Report Form (TRF) in children with DCD. We assessed primary school children (202 boys, 200 girls, range 4-10.

A comparative analysis of early child health and development services and outcomes in countries with different redistributive policies.

Background: The social environment is a fundamental determinant of early child development and, in turn, early child development is a determinant of health, well-being, and learning skills across the life course. Redistributive policies aimed at reducing social inequalities, such as a welfare state and labour market policies, have shown a positive association with selected health indicators. In this study, we investigated the influence of redistributive policies specifically on the social environment of early child development in five countries with different political traditions.

Developmental coordination disorder in children with specific language impairment: co-morbidity and impact on quality of life.

Co-morbidity of Developmental Coordination Disorder (DCD) in children with specific language impairment (SLI) and the impact of DCD on quality-of-life (QOL) was investigated in 65 5-8 year old children with SLI (43 boys, age 6.8±0.8; 22 girls, age 6.

Validity and reliability of the Movement Assessment Battery for Children-2 Checklist for children with and without motor impairments.

Aim: The aim of this study was to investigate the validity and reliability of the Movement Assessment Battery for Children-2 Checklist (MABC-2).

Method: Teachers completed the Checklist for 383 children (age range 5-8y; mean age 6y 9mo; 190 males; 193 females) and the parents of 130 of these children completed the Developmental Disorder Coordination Questionnaire 2007 (DCDQ'07). All children were assessed with the MABC-2 Test.

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly. We aimed to narrow down the critical region for PAP-A2 in order to identify candidate genes.

Effects of methylphenidate on quality of life in children with both developmental coordination disorder and ADHD.

Measurement of health-related quality of life (HRQOL) in attention-deficit-hyperactivity disorder (ADHD) gives a more complete picture of day-to-day functioning and treatment effects than behavioural rating alone. The aim of this pilot study was to investigate the impact of the combined diagnoses of developmental coordination disorder (DCD) and ADHD on HRQOL, and the effectiveness of methylphenidate (MPH) on HRQOL. HRQOL was established using the Dutch-Child-AZL-TNO-Quality-of-Life (DUX-25) and the TNO-AZL-Child-Quality-of-Life (TACQOL) questionnaires, completed by children and parents.

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 5-10years, 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=-.

Evaluation of the Developmental Coordination Disorder Questionnaire as a screening instrument.

Reliability and validity of the Developmental Coordination Disorder Questionnaire (DCD-Q) was assessed using a population-based sample of 608 children (311 males, 297 females; mean age 7 y 8 mo [SD 2 y 4 mo]), a sample of 55 children with DCD referred to a rehabilitation clinic, and a control sample of 55 children matched for age and sex (48 males, seven females in each sample; mean age 8 y 3 mo [SD 2 y]). The DCD-Q is reliable and valid in the age range for which the questionnaire was developed(8 y-14 y 7 mo) and in a younger age range (4-8 y). Sensitivity and specificity of the DCD-Q was assessed using the Movement Assessment Battery for Children as the criterion standard.

Fine motor skills and effects of methylphenidate in children with attention-deficit-hyperactivity disorder and developmental coordination disorder.

The aims of this study were to investigate fine motor skills of children with both attention-deficit-hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) and those of a control group, and to examine the effects of methylphenidate on these skills. A group of 12 children with ADHD-DCD (11 males, one female; mean age 9y 8mo [SD 1y 7mo]) and 12 age- and sex-matched controls (mean age 9y 7mo [SD 1y 2 mo]) participated. The manual dexterity subtests of the Movement Assessment Battery for Children, the concise assessment method for children's handwriting, and a computerized graphomotor task were used.