Pharmacological treatment in autism: a proposal for guidelines on common co-occurring psychiatric symptoms.

Background: The prevalence of autism spectrum disorder (ASD) has surged, with an estimated 1 in 36 eight-year-olds in the United States meeting criteria for ASD in 2020. Autistic individuals face elevated rates of co-occurring medical, psychiatric, and behavioral conditions compared to non-autistic individuals. The rising ASD-patient demand is increasingly outpacing the capacity of ASD-specialty clinics, resulting in urgent need for autism-competent providers in general practice settings.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.

Methods: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder.

Optimizing Care for Autistic Patients in Health Care Settings: A Scoping Review and Call to Action.

Objective: We conducted a scoping review of interventions designed to improve the health care experiences of autistic individuals and assessed the methodology and outcomes used to evaluate them.

Methods: Literature from January 2005 to October 2020 was searched using PubMed, Excerpta Medica dataBASE (EMBASE), Cumulated Index to Nursing and Allied Health Literature (CINAHL), PsycINFO as well as hand searching. Studies included described an intervention for autistic individuals in inpatient or outpatient settings and evaluated the intervention using standardized methodology.

A Practice Pathway for the Treatment of Night Wakings in Children with Autism Spectrum Disorder.

Children with autism spectrum disorder (ASD) report high rates of sleep problems. In 2012, the Autism Treatment Network/ Autism Intervention Research Network on Physical Health (ATN/AIR-P) Sleep Committee developed a pathway to address these concerns. Since its publication, ATN/AIR-P clinicians and parents have identified night wakings as a refractory problem unaddressed by the pathway.

Bone health in children and youth with ASD: a systematic review and meta-analysis.

Higher risk of fracture reported in individuals with autism spectrum disorder (ASD) might be linked to poor bone health and development in childhood. This study aimed to systematically review studies comparing imaged bone outcomes between children with ASD and typically developing children (TDC) or reference data, and to perform a meta-analysis comparing commonly reported bone outcomes. We searched articles published since August 2020 from PubMed, Cochrane Library, Web of Science, EMBASE, and Scopus databases.

Vision care among school-aged children with autism spectrum disorder in North America: Findings from the Autism Treatment Network Registry Call-Back Study.

Children with autism are at high risk for vision problems, which may compound core social and behavioral symptoms if untreated. Despite recommendations for school-aged children with autism to receive routine vision testing by an eye care practitioner (ophthalmologist or optometrist), little is known about their vision care. This study, therefore, examined vision care among 351 children with autism ages 6-17 years in the United States or Canada who were enrolled in the Autism Treatment Network Registry.

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.

Genetic variants causing the fast-channel congenital myasthenic syndrome (CMS) have been identified in the α, δ, and ε but not the β subunit of acetylcholine receptor (AChR). A 16-year-old girl with severe myasthenia had low-amplitude and fast-decaying miniature endplate potentials. Mutation analysis revealed two heteroallelic variants in CHRNB1 encoding the AChR β subunit: a novel c.

Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion.

3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity.

Physical activity rates in children and adolescents with autism spectrum disorder compared to the general population.

Physical activity may improve symptoms and skill deficits associated with autism spectrum disorder (ASD). The objective of this study was to compare the reported frequency of physical activity and covariates in a large sample of children with ASD with children of similar age from the general population. The sample with ASD was derived from the Autism Treatment Network Registry Call Back Assessment (n = 611), and the general population data were derived from the National Survey of Children's Health (NSCH) (n = 71,811).

Investigating Potential Biomarkers in Autism Spectrum Disorder.

Background: Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize treatment recommendations is lacking. Biomarkers that could be routinely measured within the clinical setting could potentially transform clinical care for patients with ASD. This demonstration project employed collection of biomarker data during regular autism specialty clinical visits and explored the relationship of biomarkers with clinical ASD symptoms.

Metabolic interventions in Autism Spectrum Disorder.

Metabolic interventions including special diets and supplements are commonly used in Autism Spectrum Disorder (ASD). Yet little is known about how these interventions, typically initiated by caregivers, may affect metabolic function or the core symptoms of ASD. This review examines possible direct and indirect roles for metabolism in the core symptoms of ASD as well as evidence for metabolic dysfunction and nutritional deficiencies.

Assessment of Walking Routes as a Possible Approach for Promoting Physical Activity in Children with Autism Spectrum Disorder: Brief Report.

Children with autism spectrum disorder (ASD) are at increased risk for being overweight/obese and face a variety of challenges with achieving the recommended levels of physical activity. Physical activity level has additionally been linked to motor skills, sleep, cognitive function and academic performance, and mental health in children with ASD. We pilot tested the feasibility and preliminary efficacy of walking routes as a novel approach to increasing physical activity among children with ASD.

Beyond the brain: A multi-system inflammatory subtype of autism spectrum disorder.

An immune-mediated subtype of autism spectrum disorder (ASD) has long been hypothesized. This article reviews evidence from family history studies of autoimmunity, immunogenetics, maternal immune activation, neuroinflammation, and systemic inflammation, which suggests immune dysfunction in ASD. Individuals with ASD have higher rates of co-morbid medical illness than the general population.

Course and Predictors of Sleep and Co-occurring Problems in Children with Autism Spectrum Disorder.

The chronicity of sleep disturbance and its relation to co-occurring symptoms in children with autism spectrum disorder (ASD) are not well understood. The current study examined longitudinal relations among sleep and co-occurring symptoms in a large well-characterized sample of 437 children with ASD assessed at baseline and follow-up (M = 3.8 years later).

Identifying Associations Among Co-Occurring Medical Conditions in Children With Autism Spectrum Disorders.

Objective: Children with autism spectrum disorder (ASD) have a high prevalence of co-occurring medical conditions, including speech, sleep, and gastrointestinal disorders (constipation and feeding difficulties); developmental delay; attention deficit/hyperactivity disorder; hypotonia; epilepsy; anxiety; disruptive behavior; pica; and eczema. Less is known about whether these commonly coexist in the same children. We sought to determine clinically meaningful, statistically significant associations among co-occurring medical conditions in children with ASD that could lead to better understanding, identification, and treatment of these disorders.

Expanding the Capacity of Primary Care to Treat Co-morbidities in Children with Autism Spectrum Disorder.

We examined barriers and facilitators to expanding primary care's capacity to manage conditions associated with autism spectrum disorder (ASD). We conducted semi-structured interviews with specialists, primary care providers (PCPs), primary care staff, and parents of children with ASD, discussing health/behavior problems encountered, co-management, and patient/family experience. Participants endorsed primary care as the right place for ASD-associated conditions.

Nutrition and Bone Density in Boys with Autism Spectrum Disorder.

Background: Boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. Differences in diet and exercise may contribute to low BMD.

Objective: Our aim was to examine macro- and micronutrient intakes and self-reported physical activity in boys with ASD compared to TDC and the relationship of these variables with BMD.

Feasibility of Conducting Autism Biomarker Research in the Clinical Setting.

Objective: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD).

Methods: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions.