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Direct linkIrene Campos-Sánchez; Eva María Navarrete-Muñoz; Dries S. Martens; Isolina Riaño-Galán; Aitana Lertxundi; Sabrina Llop; Mónica Guxens; Cristina Rodríguez-Dehli; Nerea Lertxundi; Raquel Soler-Blasco; Martine Vrijheid; Tim S. Nawrot; John Wright; Tiffany C. Yang; Rosie McEachan; Kristine Bjerve Gützkow; Vaia Lida Chatzi; Marina Vafeiadi; Mariza Kampouri; Regina Grazuleviciene; Sandra Andrusaityte; Johanna Lepeule; Desirée Valera-Gran – Journal of Attention Disorders, 2025
Objective: To explore the association between telomere length (TL) and attention deficit hyperactivity disorder (ADHD) symptoms in children at 6-12 years. Method: Data from 1,759 children belonging to the HELIX project cohorts and the Asturias, Gipuzkoa and Valencia cohorts of INMA project were included. TL was determined by blood sample using a…
Descriptors: Foreign Countries, Genetic Disorders, Attention Deficit Hyperactivity Disorder, Mothers
Agustina Sabino Romagnoli; Letícia Nunes Campos; Daniel Fernandez-Guzman; Sofia Wagemaker; Federico Fernandez Zelcer; Carlos Stegmann; Carina F. Argüelles; Laura F. Sosa; Ayla Gerk; Jorgelina Stegmann – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…
Descriptors: Clinical Diagnosis, Patients, Genetic Disorders, Diseases
Heather Coleman; Arlene Mannion; Sally Whelan; Megan Tones; Helen Heussler; Matthew Bellgard; Geraldine Leader – Journal of Autism and Developmental Disorders, 2025
Angelman Syndrome (AS) is a rare genetic disorder that impacts 1:20,000 people. Challenging behaviour, such as severe injurious behaviour, aggression and frequent unprovoked episodes of laughter are a significant problem among adults with AS that adversely impacts an individual's quality of life. This study, for the first time, aims understand the…
Descriptors: Genetic Disorders, Behavior Disorders, Adults, Predictor Variables
Kimberly A. Schreck; Lindsay M. Knapp – Review Journal of Autism and Developmental Disorders, 2023
Children with mucopolysaccharidosis IIIA (MPS-IIIA) may receive a diagnosis of autism spectrum disorder (ASD) due to MPS-IIIA's initial symptom similarities with ASD. This may lead to professionals receiving referrals to work with these children but unaware of how these children may respond differently to treatment. To appropriately work with…
Descriptors: Symptoms (Individual Disorders), Autism Spectrum Disorders, Genetic Disorders, Allied Health Personnel
Uljarevic, Mirko; Frazier, Thomas W.; Rached, Gaëlle; Busch, Robyn M.; Klaas, Patricia; Srivastava, Siddharth; Martinez-Agosto, Julian A.; Sahin, Mustafa; Eng, Charis; Hardan, Antonio Y. – Journal of Autism and Developmental Disorders, 2022
This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with "PTEN" mutations and individuals with macrocephalic ASD. The sample included 38 individuals with "PTEN" mutation and ASD diagnosis ("PTEN"-ASD; M[subscript age] =…
Descriptors: Executive Function, Anxiety, Autism, Pervasive Developmental Disorders
Norman, Mackenzie Z. – Communique, 2022
Turner syndrome (TS) is a chromosomal disorder, caused by either complete or partial X monosomy (i.e., absence of one member of a pair of chromosomes) in some or all cells. It affects approximately 1 in 2,500 female live births. However, only about 1% of fetuses with 45, X karyotype (image of one's chromosomes) are carried to term, and up to 10%…
Descriptors: School Psychologists, Females, Genetic Disorders, Developmental Delays
Emily K. Unholz-Bowden; Shawn N. Girtler; Alefyah Shipchandler; Rebecca L. Kolb; Jennifer J. McComas – Journal of Developmental and Physical Disabilities, 2024
The vast majority of individuals with Rett syndrome do not utilize natural speech and therefore require alternative and augmentative communication (AAC). The purpose of the current study was to investigate the use of high- and low-tech AAC modalities by three individuals with Rett syndrome given similar instruction for using both modalities. For…
Descriptors: Augmentative and Alternative Communication, Genetic Disorders, Telecommunications, Applied Behavior Analysis
Hannah R. Benavidez; Margaret Johansson; Elizabeth Jones; Hannah Rea; Evangeline C. Kurtz-Nelson; Conor Miles; Alana Whiting; Curtis Eayrs; Rachel Earl; Raphael A. Bernier; Evan E. Eichler; Emily Neuhaus – Journal of Autism and Developmental Disorders, 2025
Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate…
Descriptors: Predictor Variables, Intervention, Youth, Autism Spectrum Disorders
Laura Zampini; Alessandra Provera; Paola Zanchi; Gaia Silibello; Domenica Mastromattei; Francesca Angeleri; Maria Antonella Costantino; Paola Francesca Ajmone – Journal of Speech, Language, and Hearing Research, 2025
Purpose: This study investigated the language and cognitive skills of preschool children with sex chromosome trisomies (SCTs) with and without a co-diagnosis of developmental language disorder (DLD), considering possible differences between SCT types (i.e., XXX, XXY, and XYY). Method: Fifty-five children with a prenatally diagnosed SCT (19 XXX, 25…
Descriptors: Genetic Disorders, Preschool Children, Developmental Delays, Language Impairments
Nuttall, Michelle; Pelletier, Lise – Art Therapy: Journal of the American Art Therapy Association, 2021
Repetition compulsion is a psychodynamic concept that explains an attempt to master trauma. This case study attempts to understand the possible meanings of symbol repetition that occurred in the art therapy process of a twelve-year-old boy with acute methylmalonic acidemia. Over 29 sessions of art therapy, the client demonstrated repetition…
Descriptors: Repetition, Art Therapy, Trauma, Power Structure
Barstein, Jamie; Jeste, Shafali; Saravanapandian, Vidya; Hyde, Carly; Distefano, Charlotte – American Journal on Intellectual and Developmental Disabilities, 2021
Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with…
Descriptors: Genetic Disorders, Sleep, Children, Cognitive Ability
Boley, Nathaniel; Patil, Sanath; Garnett, Emily O.; Li, Hua; Chugani, Diane C.; Chang, Soo-Eun; Chow, Ho Ming – Journal of Speech, Language, and Hearing Research, 2021
Purpose: The biological mechanisms underlying developmental stuttering remain unclear. In a previous investigation, we showed that there is significant spatial correspondence between regional gray matter structural anomalies and the expression of genes linked to energy metabolism. In the current study, we sought to further examine the relationship…
Descriptors: Stuttering, Brain Hemisphere Functions, Children, Energy
Allen, Caitlin G.; Green, Ridgely Fisk; Dowling, Nicole F.; Fairley, Temeika L.; Khoury, Muin J. – Health Education & Behavior, 2023
Problem Addressed: To better understand the factors associated with family cancer history (FCH) information and cancer information seeking, we model the process an individual undergoes when assessing whether to gather FCH and seek cancer information and compare models by sociodemographics and family history of cancer. We used cross-sectional data…
Descriptors: Cancer, Heredity, Genetic Disorders, Information Seeking
Chisholm, Anita K.; Lami, Francesca; Haebich, Kristina M.; Ure, Alex; Brignell, Amanda; Maloof, Tiba; Pride, Natalie A.; Walsh, Karin S.; Maier, Alice; Rouel, Melissa; Granader, Yael; Barton, Belinda; Darke, Hayley; Fuelscher, Ian; Dabscheck, Gabriel; Anderson, Vicki A.; Williams, Katrina; North, Kathryn N.; Payne, Jonathan M. – Journal of Autism and Developmental Disorders, 2023
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score [greater than or equal to] 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation…
Descriptors: Gender Differences, Age Differences, Autism Spectrum Disorders, Symptoms (Individual Disorders)
Emma C. Woodford; Laurie McLay; Neville M. Blampied; Karyn G. France; Rosina Gibbs; Charis Whitaker; Emma McCaughan – Journal of Developmental and Physical Disabilities, 2023
Sleep problems are prevalent among autistic children and children with Rare Genetic Neurodevelopmental Disorders (RGND). Behavioral interventions are commonly used to treat sleep problems, with most involving extinction. While effective, the occurrence of a response burst (i.e., temporary worsening of the behavior) can result in a temporary…
Descriptors: Sleep, Neurodevelopmental Disorders, Intervention, Behavior Modification
