Social responsiveness in children with developmental coordination disorder.

BACKGROUND: Developmental coordination disorder (DCD) is a neurodevelopmental disorder characterized by deficits in performing motor tasks. Research suggests social skills are also altered. OBJECTIVE: To investigate (1) whether the presence of DCD affects social responsiveness, (2) whether the co-occurrence of autism spectrum disorder (ASD) affects social responsiveness in children with DCD, and (3) whether there is an association between motor performance and social responsiveness in children with DCD. METHODS: Based on parental reports, children aged 5 to 15.5 years were assigned to one of three groups: DCD only (noASD, n = 67), DCD and suspected ASD (sASD, n = 13), and DCD and confirmed ASD (cASD, n = 22). Parental answers to the Social Responsiveness Scale (SRS-2) and the DCD-Questionnaire (DCD-Q) were compared to norm values using one sample t-tests, and between groups using ANOVA and MANOVA. Pearson correlation coefficients explored the relationship between the SRS-2 and DCD-Q in the total group and per group. RESULTS: Compared to norm values, difficulties in all areas of social responsiveness were reported in children with DCD, regardless of group (p<0.001). Compared to the noASD group, more unfavorable SRS-2 total T-scores and poorer DCD-Q scores were observed in sASD and cASD groups. Only in the total group, motor performance showed significant weak to moderate associations with the SRS-2 total T-score and all subscales except for 'social motivation' (r=-0.306 to -0.405; p ≤ 0.02). CONCLUSION: Social responsiveness difficulties are more common in children with DCD and are more severe in the ASD groups. Motor performance and social responsiveness are weak to moderately associated. CLINICAL TRIAL REGISTRATION NUMBER: NCT05092893 (https://clinicaltrials.gov/study/NCT05092893).

47,XYY syndrome: clinical phenotype and timing of ascertainment.

OBJECTIVE: To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. STUDY DESIGN: This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. RESULTS: In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). CONCLUSIONS: The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.

Autism spectrum disorders in children with functional defecation disorders.

OBJECTIVE: To prospectively assess the prevalence of autism spectrum disorder (ASD) symptoms in children presenting with functional defecation disorders. STUDY DESIGN: Children (age 4-12 years) with functional constipation or functional non-retentive fecal incontinence according to the Rome III criteria referred to a specialized outpatient clinic were included. Parents completed 2 validated ASD screening questionnaires about their child; the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire-Lifetime (SCQ-L). A total SRS score of ≥ 51 is a strong indicator for the presence of ASD. On the SCQ-L, a score of ≥ 15 is suggestive for ASD. RESULTS: In total, 242 patients (130 males, median age 7.9 years) were included. Of these, 91% were diagnosed with functional constipation and 9% with functional non-retentive fecal incontinence. Thirteen children (5.4%) had previously been diagnosed with ASD. Twenty-six children (11%) had both SRS and SCQ-L scores at or above cutoff points, strongly suggestive for the presence of ASD. Solely high SRS were present in 42 children (17%), whereas two children (1%) only had high SCQ-L scores. Altogether, 29% had ASD symptoms, indicated by SRS and/or SCQ-L scores at or above the cutoff values. These children were older than children without ASD symptoms and presented with a longer duration of symptoms. CONCLUSIONS: A substantial number of children (29%) presenting with a functional defecation disorder at a tertiary hospital has concomitant ASD symptoms. Clinicians should be aware of ASD symptoms in children with functional defecation disorders.