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Article
Open AccessRacial Differences in the Prevalence of Autism Spectrum Disorder: A Systematic Review
Racial differences in prevalence rates of autism spectrum disorder (ASD) have shifted in the United States (US) since the 1990s. This review addresses the nature and context of this shift and discusses potenti...
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Article
Open AccessClinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one thi...
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Article
Open AccessCaregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life.
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Article
Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism
As early identification of autism improves, there is a critical need for interventions to support the development of social communication skills in toddlers. Caregiver coaching and parental involvement is cruc...
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Article
Open AccessProspective phenoty** of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comor...
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Article
Enhancing Child and Adolescent Psychiatry Recruitment Through a Medical Student Mentorship Network: A Qualitative Study
There is a shortage of psychiatrists necessary to meet the clinical needs of children and adolescents. Efforts over the past decade to enhance the workforce have had a limited impact. This study sought to iden...
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Article
Open AccessComorbidities in autism spectrum disorder and their etiologies
Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and ...
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Article
Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms
Attention-deficit/hyperactivity disorder (ADHD) symptoms affect 40–60% of autistic children and have been linked to differences in adaptive behavior. It is unclear whether adaptive behavior in autistic youth i...
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Article
Open AccessIntra-topic latency as an automated behavioral marker of treatment response in autism spectrum disorder
Data science advances in behavioral signal processing and machine learning hold the promise to automatically quantify clinically meaningful behaviors that can be applied to a large amount of data. The objectiv...
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Article
Open AccessSocial visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study
The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high...
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Article
Open AccessIndividuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, speech and language delays, and externalizing behaviors. We previously evaluat...
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Article
Open AccessProspective and detailed behavioral phenoty** in DDX3X syndrome
DDX3X syndrome is a recently identified genetic disorder that accounts for 1–3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and lang...
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Article
Open AccessShifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Phelan-McDermid Syndrome (PMS) is a rare condition caused by deletion or mutation of the SHANK3 gene. Individuals with PMS frequently present with intellectual disability, autism spectrum disorder, and other neur...
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Article
Open AccessFOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...
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Article
Open AccessDevelopment of an adapted Clinical Global Impression scale for use in Angelman syndrome
The Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I) scales are widely accepted tools that measure overall disease severity and change, synthesizing the clinician’s impression of the glo...
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Article
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
The SOFIA Study: Negative Multi-center Study of Low Dose Fluoxetine on Repetitive Behaviors in Children and Adolescents with Autistic Disorder
Fluoxetine is a selective serotonin reuptake inhibitor (SSRI) that reduces obsessive–compulsive symptoms. There is limited evidence supporting its efficacy for repetitive behaviors (RRBs) in autistic spectrum ...
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Article
The Immersive Theater Experience for Individuals with Autism Spectrum Disorder
Despite growing public awareness of ASD, many caregivers of children with ASD struggle to find opportunities for participation in community activities with appropriate accommodations. The current study evaluat...
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Article
Open AccessPsychiatric illness and regression in individuals with Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a genetic condition characterized by intellectual disability, speech and language deficits, hypotonia, autism spectrum disorder, and epilepsy. PMS is caused by 22q13.33 deleti...
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Article
Open AccessNeuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.33 and is characterized by intellectual disability, hypotonia, severe speech impairments, and autism spectrum ...
