FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder.

Whole-exome sequencing of two patients with idiopathic complex neurodevelopmental disorder (NDD) identified biallelic variants of unknown significance within FIBCD1, encoding an endocytic acetyl group-binding transmembrane receptor with no known function in the central nervous system. We found that FIBCD1 preferentially binds and endocytoses glycosaminoglycan (GAG) chondroitin sulphate-4S (CS-4S) and regulates GAG content of the brain extracellular matrix (ECM). In silico molecular simulation studies and GAG binding analyses of patient variants determined that such variants are loss-of-function by disrupting FIBCD1-CS-4S association.

Gastrointestinal dysfunctions as a risk factor for sleep disorders in children with idiopathic autism spectrum disorder: A retrospective cohort study.

Sleep disorders often co-occur with autism spectrum disorder. They further exacerbate autism spectrum disorder symptoms and interfere with children's and parental quality of life. This study examines whether gastrointestinal dysfunctions increase the odds of having sleep disorders in 610 children with idiopathic autism spectrum disorder, aged 2-18 years, from the Autism Genetic Resource Exchange research program.

Ostracism and Peer Victimization in Adolescents With and Without Mental Health Diagnoses in a Public Middle School Setting.

To better understand adolescents experiencing peer victimization, ostracism, and emotional health problems, this study aimed to describe a cohort of middle school students identified as having school peer-related social difficulties as 2 groups: those with mental health diagnoses (MHDs; n = 17) and those without diagnoses (n = 8). Participants were administered a test battery to examine communication ability, social responsiveness, social activity, ostracism, victimization, and emotional health. Results showed that adolescents with MHDs, relative to those without, scored significantly lower on measures of communication ability, social responsiveness, and social activity but similarly on measures of victimization, ostracism, and internalizing/externalizing factors.

Prevalence of non-febrile seizures in children with idiopathic autism spectrum disorder and their unaffected siblings: a retrospective cohort study.

Background: Autism spectrum disorder (ASD) is a heterogeneous disorder characterized not only by deficits in communication and social interactions but also a high rate of co-occurring disorders, including metabolic abnormalities, gastrointestinal and sleep disorders, and seizures. Seizures, when present, interfere with cognitive development and are associated with a higher mortality rate in the ASD population.

Methods: To determine the relative prevalence of non-febrile seizures in children with idiopathic ASD from multiplex and simplex families compared with the unaffected siblings in a cohort of 610 children with idiopathic ASD and their 160 unaffected siblings, participating in the Autism Genetic Resource Exchange project, the secondary analysis was performed comparing the life-time prevalence of non-febrile seizures.

A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.

Haploinsufficient microdeletions within chromosome 4q25 are often associated with Axenfeld-Rieger syndrome. A de novo 4q25 deletion, 675 kb proximal to PITX2, has previously been reported once in an adult patient. The patient did not have Axenfeld-Rieger anomaly, but instead had intellectual disability and a complex behavioral phenotype with withdrawn, stereotypic, and ritualistic behavior.

Patterns of Gesture Use in Adolescents With Autism Spectrum Disorder.

Purpose: The purpose of this study was to examine patterns of spontaneous gesture use in a sample of adolescents with autism spectrum disorder (ASD).

Method: Thirty-five adolescents with ASD ages 11 to 16 years participated (mean age = 13.51 years; 29 boys, 6 girls).

A Few Close Friends: The Pediatrician's Role in the Management of Social Skills Deficits in Adolescent Children.

Pediatricians must recognize and respond to adolescents with social skills deficits because they are at heightened risk for mental health disorders, peer victimization, and social isolation. The aim of this project was to describe a group of adolescent children at the time of enrollment into social skills treatment. Ninety participants with neurodevelopmental weaknesses or disorders, to include high-functioning autism spectrum disorder, participated.

An intragenic deletion of the gene MNAT1 in a family with pectus deformities.

Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34-month-old male and his father, likely due to a small intragenic deletion of MNAT1 (ménage a trois 1 gene). Both individuals share a deletion of MNAT1 located at 14q23.

Bullying and ostracism experiences in children with special health care needs.

Objective: Bullying experiences are becoming increasingly common in children and can have devastating consequences. Ostracism threatens a child's need for self-esteem, sense of belonging, sense of control, and meaningful existence. Recent literature suggests that children with special health care needs may be at risk for these negative events and consequences.