BackgroundChildren and their mothers, who are usually the primary caregivers, are likely to be distressed due to type 1 diabetes (T1DM).Objectives(1) To assess diabetes-specific distress (DD) perceived by children and adolescents with T1DM and their mothers and association of distress between children and mothers. (2) To study the association of diabetes distress with glycemic control and disease duration.SubjectsChildren and adolescents with T1DM over eight years and their mothers.MethodsClinical data were recorded. DD was assessed by Problem Associated in Diabetes-Pediatric (PAID-Peds) (range 0–80) and Problem Associated in Diabetes-Parents Revised (PAID-PR) (range 0–72) questionnaires (higher scores indicate higher distress); administered to children and mothers, respectively. Sub-dimensions in questionnaires included diabetes-related emotional problems, and treatment-, food-, and social support-related problems. Correlation analysis (Spearman’s) was performed, and a paired t-test was used to compare PAID-Peds and PAID-PR (SPSS 25).ResultsMean PAID-Peds and PAID-PR scores in 67 children and mothers were 24.4 ± 18.1 and 31.9 ± 21.5, respectively (p=0.009), and a significant correlation was noted between their scores (R=0.45, p=0.001). PAID-Peds score was positively associated with HbA1c (R=0.25, p=0.04). Diabetes-related emotional problems of mothers and children (R=0.38, p=0.003), treatment problems (R=0.5, p=0.001), and food problems (R=0.24, p=0.05) correlated positively. Subdimension scores were significantly different in children and mothers except in the social support domain.ConclusionDD was higher in mothers than children; higher distress in children was associated with poor metabolic control. Evaluation of DD needs to be performed in children with T1DM.

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PURPOSE: Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by the presence of particular facies, congenital malformations, intellectual developmental disorder, behavioral issues, and speech and language impairment. Thorough neuropsychological assessments in the case of CSS have been reported infrequently, and its subdomains are poorly defined. A detailed description of the clinical, neurocognitive, behavioral, socio-adaptive sequelae of the patient with CSS is provided. RESULTS: The clinical diagnosis in the patient was confirmed by genetic analysis, which identified the presence of mutation of ARID1B gene; the parents’ Sanger sequencing reported normal. The neuropsychological assessments revealed borderline intellectual functioning (IQ-75, verbal >  performance) with a mild socio-adaptive deficit score of 64 as suggested by the adaptive scale. The behavioral profile reported that the child had significant difficulties in the attention subdomain with concern in social and thought subdomains. The child met the profile for mild severity of Autism Spectrum Disorder and did not meet the criteria for Attention Deficit Hyperactivity Disorder. In addition, the child had scholastic difficulties in reading and mathematical skills. CONCLUSION: Neurocognitive, behavioral, socio-adaptive functioning and comorbidity assessment in order to provide holistic management of such children after thorough evaluation is essential for their overall functioning.

PURPOSE: Parenting a child with special health care needs (SHCN) is often stressful. This study aimed to measure and compare stress among mothers of children with (a) Autism Spectrum Disorder (ASD) - ASD group, (b) Developmental delay without ASD group, (c) SHCN without developmental delay group, and (d) Typically developing group. To assess factors associated with maternal stress in children with developmental disorders. METHODS: A cross-sectional analytical study was performed with children aged 2–12 years and their mothers. The study population was classified into four groups as defined above help of detailed history, developmental & behavioral assessments, psychological assessments, and Child Special Health Care Needs Screener (CSHCN). Parental Stress Scale (PSS) Questionnaire was administered. The main outcome measurement was the PSS and various factors affecting it. RESULTS: The mothers of the ASD group reported a high stress score (50.4±11.4) compared to SHCN without developmental delay group (38.2±8.8) and the Typically developing group (22.3±3.3) (p < 0.05) and higher but not significant stress than Developmental delay without ASD group (45.3±9.6, p > 0.05). Maladaptive behavioral issues and irregular interventions were the factors contributing to higher parental stress in the ASD group (p < 0.05). A moderate positive correlation was observed in rewarding and challenging scores of PSS among mothers of the ASD group, Developmental delay without ASD group, and SHCN without developmental delay group. CONCLUSION: Mothers of the ASD group perceived higher stress as compared to SHCN without developmental delay group and Typically developing group. Evaluation of stress and stressors is crucial for holistic management of ASD.

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