Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.

What interests young autistic children? An exploratory study of object exploration and repetitive behavior.

Behaviors characterized as restricted and repetitive (RRBs) in autism manifest in diverse ways, from motor mannerisms to intense interests, and are diagnostically defined as interfering with functioning. A variety of early autism interventions target RRBs as preoccupying young autistic children to the detriment of exploration and learning opportunities. In an exploratory study, we developed a novel stimulating play situation including objects of potential interest to autistic children, then investigated repetitive behaviors and object explorations in 49 autistic and 43 age-matched typical young children (20-69 months). Autistic children displayed significantly increased overall frequency and duration of repetitive behaviors, as well as increased specific repetitive behaviors. However, groups did not significantly differ in frequency and duration of overall object explorations, in number of different objects explored, or in explorations of specific objects. Exploratory analyses found similar or greater exploration of literacy-related objects in autistic compared to typical children. Correlations between repetitive behaviors and object explorations (their frequency and duration) revealed positive, not negative, associations in both groups. Our findings, from a novel situation incorporating potential autistic interests, suggest that RRBs do not necessarily displace exploration and its possibilities for learning in autism.

Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders.

AIM: To investigate paediatricians' expectations and perspectives of genetic testing for children with developmental disorders. METHODS: Paediatricians working in a developmental clinic were surveyed each time they ordered a chromosomal microarray (CMA) for a child with developmental disorders. Clinical charts were reviewed. Results were analysed using mixed methodology. RESULTS: Ninety-seven % (73/76) of surveys were completed. Paediatricians reported that 36% of parents had difficulties understanding genetic testing and that 40% seemed anxious. The majority expected testing to have positive impacts on children/families. The themes raised were (i) clarifying the diagnosis (56%), (ii) understanding the aetiology of the condition (55%), (iii) enabling prenatal diagnosis/counselling (43%), (iv) improving medical care for the child (15%) and (v) decreasing parental guilt/anxiety (8%). Less than half anticipated negative impacts; 74% expected that the most helpful result for their patient would be an abnormal result explaining the disorder. Among the 73 children for whom CMA was ordered, 81% got tested: 66% of the results were normal, 19% were abnormal and contributed to explain the condition and 12% were abnormal but of unknown significance. CONCLUSION: Paediatricians generally expect many positive and less negative impacts of genetic testing for children with developmental disorders. Parental perspectives are needed.

Brief Report: Biological Sound Processing in Children with Autistic Spectrum Disorder.

There is debate whether social impairments in autism spectrum disorder (ASD) are truly domain-specific, or if they reflect generalized deficits in lower-level cognitive processes. To solve this issue, we used auditory-evoked EEG responses to assess novelty detection (MMN component) and involuntary attentional orientation (P3 component) induced by socially-relevant, human-produced, biological sounds and acoustically-matched control stimuli in children with ASD and controls. Results show that early sensory and novelty processing of biological stimuli are preserved in ASD, but that automatic attentional orientation for biological sounds is markedly altered. These results support the notion that at least some cognitive processes of ASD are specifically altered when it comes to processing social stimuli.

Early constipation and toilet training in children with encopresis.

OBJECTIVE: To evaluate the frequency of predisposing factors for encopresis before and during toilet training, comparing children with primary and secondary encopresis. METHODS: In this retrospective study, questionnaires from the initial evaluation at an encopresis clinic at a tertiary care pediatric hospital were reviewed for the presence or absence of factors in the first 2 years of life, for toilet training practices, and for disruptive events during the training process. Children younger than 48 months or those with organic defecation disorders were excluded. RESULTS: In 411 children with encopresis, the reported frequency of predisposing factors included constipation in 35%, and previous treatment for constipation in 24%. Toilet training was initiated before age 2 years in 26% and after age 3 years in 14%. Interruption of toilet training and punishment were seen more in primary encopresis than in secondary encopresis (50% versus 23%; P < 0.05) and (52% versus 26%; P < 0.05) respectively. Constipation (30% versus 18%; P < 0.05) and abdominal pain (23% versus 9%; P <0.0:5) during toilet training were more common in primary encopresis as was fear of the toilet (47% versus 10%; P < 0.05). CONCLUSIONS: In children with encopresis, early difficult defecation, previous treatment for constipation, and early initiation of toilet training were less common than expected. Children with primary encopresis did not have an increased incidence of early constipation or invasive treatments compared with those with secondary encopresis. However, children with primary encopresis did have more difficult and disruptive toilet training experiences.