Boudien Flapper

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 childrens handwriting, and a computerized graphomotor task were used. Results demonstrated that children with ADHD–DCD performed more poorly on the manual dexterity subtests, had poorer quality of handwriting, and drew more rapidly, more fluently, but less accurately than controls on the graphomotor task. On methylphenidate, manual dexterity and quality of handwriting improved, and strokes on the graphomotor task became less fluent but more accurate. ADHD is characterized by persistent symptoms of inattention, impulsivity, and hyperactivity, affecting 3 to 5% of school‐age children. Up to 50% of children with ADHD also have motor coordination problems that are severe enough to meet criteria for DCD. In DCD, children demonstrate functional motor performance deficits not explained by the childs (chronological) age or intellect, or by other neurological or psychiatric disorders

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. The DCD-Q met the standard for sensitivity (80%) in the clinic-referred sample (81.6%), but not in the population-based sample (28.9%). Specificity almost reached the standard of 90%: 89% in the population-based sample and 84% in the clinic-referred sample.

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. HRQOL of these children was compared with that of 23 age‐ and sex‐matched healthy controls. Twenty‐three children (21 males, two females; mean age 8y 6mo, [SD 3mo] range 7y‐10y 8mo) with ADHD/DCD entered a 4‐week, open‐label MPH study, after MPH‐sensitivity was established, in a double‐blind, placebo‐controlled trial. In these childrens self‐ and proxy reports, impact of both DCD and ADHD was reflected in lower general well‐being (self and proxy report p=0.001) due to lower functioning in motor (selfp=0.026; proxy 0.001), autonomic (self p<0.001; proxy p=0.047), cognitive (self p=0.001; proxy p=0.01), and social (self and proxy p<0.001) domains. HRQOL scores improved in 18 children receiving MPH (p=0.001) versus controls. The ADHD /DCD group also demonstrated a significant improvement in ADHD symptoms (p<0.001) and motor functioning (p<0.001). Additional motor therapy will still be needed in about half of the children with ADHD/DCD receiving MPH, within multimodal treatment including educational and psychosocial assistance.

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 6.6±0.8). The prevalence of DCD was assessed using DSM-IV-TR criteria (American Psychiatric Association (APA), 2000) operationally defined in the clinical practice guideline (CPG): movement ABC scores below 15th percentile, scores on DCDQ and/or MOQ-T below 15th percentile, absence of medical condition according to paediatric-neurological exam. Quality of life (QOL) was measured with the TNO-AZL-Child-Quality-Of-Life (TACQOL) Questionnaire filled out by parents for the SLI group with and without DCD, and compared to a reference group (N=572; age 6.9±0.9). The TACQOL covers 7 QOL domains: physical, motor, cognitive and social functioning, autonomy, positive and negative moods. Prevalence of DCD in children with SLI was 32.3%. In children with SLI, mean QOL scores were significantly lower in the autonomy, cognitive, social and positive moods domains compared to the reference group. Children with SLI and DCD differed from children with SLI without DCD by significantly lower mean overall-, motor-, autonomy-, and cognitive domain-QOL scores. Clinicians should be aware that about one third of children with SLI can also be diagnosed with DCD. Assessment of QOL is warranted in order to assess which domains are affected in children with SLI with or without DCD.

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).

Happiness to be gained in paediatric asthma care

The aim of the present study was to establish the efficacy in terms of morbidity and health-related quality of life (HRQoL) of a group asthma education-exercise programme to children with low (below 10th percentile value) quality-of-life scores. A controlled, randomised, open, clinical trial was conducted. In total, 36 out of 53 unhappy children, among 204 (68%) respondents, treated in four paediatric practices, enrolled (mean age 10 yrs; range: 8–12 yrs), after random allocation in control and intervention groups (child, parent, teacher). Measurements were taken at baseline (T0) and after 3, 6 (T6) and 9 months (T9; intervention group only at 9 months). All but four controls completed the study. From T0–T6, changes (Δ) in HRQoL were clinically important and significantly greater in the intervention group than in the control group, both for generic HRQoL (effect size (ES) 0.95; Δ 16%±12% versus -1±4%) and for asthma-specific HRQoL (ES 0.58; Δ 15%±17% versus 1.5±14%). T9 measurements were consistent with T6 findings. Changes in sick days (ES 0.78), oral prednisone courses (ES 0.71) and doctor visits (ES 0.74) over a 6-month period were greater in the intervention group than in the control group. Changes could not be ascribed to change in lung function or medication. In unhappy children, quality of life and morbidity may improve with a low intensity asthma education-exercise programme, even without gains in pulmonary function or exercise tolerance.

Psychometric properties of the TACQOL-asthma, a disease-specific measure of health related quality-of-life for children with asthma and their parents

The disease-specific-TACQOL-asthma questionnaire measures health-status and appraisal of health status. The TACQOL-asthma evaluates the personal feelings about problems in the domains, ‘complaints, situations, emotions, treatment and medication’. The TACQOL-asthma can be used alone or in combination with the generic TACQOL. Our objective was to study the psychometric properties of the TACQOL-asthma-questionnaire. Responses of 298 parents and children with asthma (age eight to 16 years) in four paediatric practices in the northern part of the Netherlands were studied. The factor-analysis and item-domain correlation analysis show a moderate to strong correlation between the different items and their hypothesised domains. For all items, the correlation of the separate item with the hypothesized domain is stronger than with any other domain. The internal consistency (Cronbachs alpha) of the domains is moderate to good. Concurrent correlation with the Paediatric-Asthma-Quality-of-Life-Questionnaire-(PAQLQ) was significant. Effect sizes of differences between asthma-severity classes in TACQOL-asthma and PAQLQ-scores were similar and of clinical importance. This study validates the TACQOL-asthma as a new disease-specific questionnaire. The TACQOL-asthma ensures a measurement of health status as well as appraisal ofhealth problems. The TACQOL-asthma has good reliability and validity properties to serve as an evaluative and discriminate disease-specifichealth-related-quality-of-life questionnaire.

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. We performed chromosomal analysis, FISH and array-CGH in a patient with an interstitial duplication of chromosome 13q31.3q32.1 and a mild phenotype including postaxial polydactyly. The duplicated region spanned 5.59 Mb (89.67-95.25 Mb) and contained eleven known genes, including GPC5 and GPC6. GPC5 and GPC6 show homology with GPC3 and GPC4, genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. Mouse studies have shown expression of both GPC5 and GPC6 in developing limbs. Therefore, we propose that GPC5 and GPC6 are the most likely candidate genes for PAP-A2.

Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome?: A randomized, double-blind, placebo-controlled trial

Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder with at least 60 children and 35 adults diagnosed in the Netherlands. Clinical features are moderate to severe intellectual disability and behavioural problems in the autism spectrum. Other researchers had observed a beneficial effect of intranasal insulin on development and behaviour in a pilot study in six children with PMS. To validate this effect, we conducted a randomized, double-blind, placebo-controlled clinical trial using a stepped-wedge design. From March 2013 to June 2015, 25 children aged 1–16 years with a molecularly confirmed 22q13.3 deletion including the SHANK3 gene participated in the clinical trial for a period of 18 months. Starting 6 months before the trial, children were systematically assessed for cognitive, language and motor development and for adaptive, social and emotional behaviour every 6 months. The second, third and fourth assessments were followed by daily nose sprays containing either intranasal insulin or intranasal placebo for a 6-month period. A fifth assessment was done directly after the end of the trial. Intranasal insulin did not cause serious adverse events. It increased the level of developmental functioning by 0.4–1.4 months per 6-month period, but the effect was not statistically significant in this small group. We found a stronger effect of intranasal insulin, being significant for cognition and social skills, for children older than 3 years, who usually show a decrease of developmental growth. However, clinical trials in larger study populations are required to prove the therapeutic effect of intranasal insulin in PMS.

A multidisciplinary intervention programme has positive effects on quality of life in overweight and obese preschool children

Up to 18.1% of Dutch children aged 3–5 are overweight and up to 3.3% are obese, with higher levels in girls. This study assessed the effect of a multidisciplinary intervention programme on health‐related quality of life (HRQoL) in this patient group.