Quality of Life Among Caregivers of Children with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder: A Cross Sectional Study.

Caregivers of children with attention deficit-hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) experience more stress than caregivers of typically developing children but there is limited research evaluating caregivers' quality of life (QoL). This study aimed to describe the association of caregiver QoL in children with ASD and/or ADHD. This study included patients with ADHD and/or ASD seen in one pediatric specialty clinic between September 2018-August 2020. Caregivers were classified as those caring for children with ASD-only, ADHD-only, or youth with both conditions (ADHD + ASD). An adapted version of the PedsQL Family Impact Module was used to measure caregiver QoL. The sample included caregivers of 931 children. The majority of these children were male (74.7%), non-Hispanic white (63.3%), and aged 6 to 12 years (57.8%). Across the groups, significant differences were observed in patient age (p < 0.0001), preferred language (p = 0.005), and insurance (p = 0.001). Caregivers of non-Hispanic Black children had 4-times the odds of reporting feeling isolated from others (OR 4.36, 95% CI 1.19-16.00 p = 0.03). Those caring for children with ADHD-only had significantly lower odds of reporting helplessness or hopelessness (OR 0.45, 95% CI 0.26-0.80, p = 0.004), and difficulty talking about their child's health with others (OR 0.30, 95% CI 0.17-0.54, p < 0.0001). Similarly, caregivers of children who had ADHD + ASD reported higher odds of difficulty making decisions together as a family (OR 14.18, 95% CI 1.15-17.91, p=0.04) and difficulty solving family problems together (OR 45.12, 95% CI 2.70-752.87), p = 0.008). Caring for children with ADHD and/or ASD may affect caregiver QoL.

Reliable Digit Span Scores Among Latin American Monolingual Spanish Speakers.

OBJECTIVE: The Reliable Digit Span (RDS) is an embedded measure used to assess performance validity. The purpose of this study was to determine whether the RDS can be used with Spanish speakers from Latin America. METHOD: The Digit Span subtest of the Wechsler Adult Intelligence Scale-IV was administered to 66 Spanish-speaking patients, 66 English-speaking patients, and 30 Spanish-speaking normal controls. The Spanish-speaking patients had a mean age of 65.82 (standard deviation [SD] = 12.44) and mean education of 6.62 years (SD = 4.91), whereas the controls had a mean age of 48.27 (SD = 10.97) and mean education of 8.33 (SD = 3.04). The English-speaking patients had a mean age of 56.44 (SD = 13.53) and mean education of 12.14 (SD = 2.37). RESULTS: The average RDS among the Spanish-speaking patients was 5.36 (SD = 1.27) and the average RDS among the controls was 5.90 (SD = 1.06). The mean RDS of the English-speaking patients was 7.83 (SD = 1.72). The modal RDS among Spanish-speaking patients was 5. The modal RDS among Spanish-speaking controls was also 5, though the distribution was bimodal in nature with nearly as many 7 s as 5 s. The modal RDS among the English-speaking patients was 7. Among patients with ≥9 years of education and controlling for age, there remained a significant difference between both language patient groups on the RDS (F(1, 79) = 30.85, p < .0001). CONCLUSIONS: These data suggest that the RDS may not be a valuable measure in assessing performance validity among monolingual Spanish speakers from Latin America, particularly among those with low levels of education.

A cross-sectional natural history study of aspartylglucosaminuria.

Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration in early adulthood. Precision therapies, including gene transfer therapy, are in development with a goal of taking advantage of the slow clinical course. Understanding of disease natural history and identification of disease-relevant biomarkers are important steps in clinical trial readiness. We describe the clinical features of a diverse population of patients with AGU, including potential imaging and electrophysiological biomarkers. This is a single-center, cross-sectional study of the clinical, neuropsychological, electrophysiological, and imaging characteristics of AGU. A comprehensive assessment of eight participants (5 Non-Finnish) revealed a mean non-verbal IQ (NVIQ) of 70.25 ± 10.33 which decreased with age (rs = -0.85, p = 0.008). All participants demonstrated deficits in communication and gross/fine motor dysfunction. Auditory and visual evoked potentials demonstrated abnormalities in one or both modalities in 7 of 8 subjects, suggesting sensory pathway dysfunction. Brain imaging demonstrated T2 FLAIR hypointensity in the pulvinar nuclei and cerebral atrophy, as previously shown in the Finnish AGU population. Magnetic resonance spectroscopy (MRS) showed a 5.1 ppm peak corresponding to the toxic substrate (GlcNAc-Asn), which accumulates in AGU. Our results showed there was no significant difference between Finnish and Non-Finnish patients, and performance on standardized cognitive and motor testing was similar to prior studies. Age-related changes on functional assessments and disease-relevant abnormalities on surrogate biomarkers, such as MRS, could be used as outcome measures in a clinical trial.

Examining the impact of physical activity on sleep quality and executive functions in children with autism spectrum disorder: A randomized controlled trial.

Sleep disturbance and executive dysfunction have been widely reported in children with autism spectrum disorder. While the positive impacts of physical activity on sleep quality and cognition are documented in children with typical development, similar studies in children with autism spectrum disorder are scarce. The objective of this study was to examine the impact of physical activity on sleep quality and cognition in children with autism spectrum disorder. A total of 40 children diagnosed with autism spectrum disorder (mean age = 9.95 years) were randomly assigned into two groups: physical activity intervention and control. Four sleep parameters (sleep efficiency, sleep onset latency, sleep duration, and wake after sleep onset) and two executive functions (inhibition control and working memory) were assessed. Results revealed a significant improvement in sleep efficiency, sleep onset latency, and sleep duration in the intervention group but not in the control group during weekdays. Moreover, a significant improvement in inhibitory control was shown in the intervention group but not in the control group. No significant improvement in working memory capacity was documented in either group (ps > 0.05). Our findings highlight the value of physical activity in improving sleep quality and cognition among children with autism spectrum disorder, but specific physical activity may be required to benefit individual executive functions.

Pitt-Hopkins Syndrome: A Unique Case Study.

OBJECTIVES: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells. The present case study expands existing understanding of this disorder by presenting a unique phenotype with higher cognitive abilities and fewer medical comorbidities. METHODS: The present case study reports on a 13-year-old, Caucasian male with a recent diagnosis of PTHS following genetic testing (i.e., whole exome sequencing). He was referred for a neuropsychological evaluation to document his neurocognitive functioning to assist with intervention planning. RESULTS: Evaluation of intellectual, attention/executive, memory, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning revealed global impairment across all areas of functioning. However, he demonstrated abilities beyond what has been detailed in the literature, including use of full sentences, capacity to learn and solve novel problems, basic academic functioning, and independent ambulation. CONCLUSIONS: Children with PTHS may demonstrate a spectrum of abilities beyond what has been documented in the literature thus far. Failure to recognize this spectrum can result in late identification of an accurate diagnosis. (JINS, 2018, 24, 995-1002).