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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Caitlin N. Harrington; Ana Morales; Jonathan A. Bernstein; Laurel Calderwood – Journal of Autism and Developmental Disorders, 2025
A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to…
Descriptors: Patients, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Masahiro Hirai; Ayaka Ikeda; Takeo Kato; Takahiro Ikeda; Kosuke Asada; Yoko Hakuno; Kanae Matsushima; Tomonari Awaya; Shin Okazaki; Toshihiro Kato; Toshio Heike; Masatoshi Hagiwara; Takanori Yamagata; Kiyotaka Tomiwa; Ryo Kimura – Journal of Autism and Developmental Disorders, 2025
Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder. Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups. Results: The…
Descriptors: Sensory Experience, Profiles, Autism Spectrum Disorders, Genetic Disorders
Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Amrita Minhas; Kerri Whitlock; Cory Rosenfelt; Julie Shatto; Brittany Finlay; Jennifer Zwicker; Sarah Lippe; Sebastien Jacquemont; Randi Hagerman; Kara Murias; Francois V. Bolduc – Journal of Autism and Developmental Disorders, 2025
The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X…
Descriptors: Genetic Disorders, Mental Health, Sleep, Symptoms (Individual Disorders)
Fouad A. Alshaban; Mohammad Aldosari; Iman Ghazal; Hawraa Al-Shammari; Saba ElHag; I. Richard Thompson; Jennifer Bruder; Hibah Shaath; Fatema Al-Faraj; Mohamed Tolefat; Assal Nasir; Eric Fombonne – Journal of Autism and Developmental Disorders, 2025
Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor…
Descriptors: Risk, Symptoms (Individual Disorders), Autism Spectrum Disorders, Environmental Influences
Carla A. Wall; Frederick Shic; Elizabeth A. Will; Quan Wang; Jane E. Roberts – Journal of Autism and Developmental Disorders, 2025
Purpose: Fragile X syndrome (FXS) is a single-gene disorder characterized by moderate to severe cognitive impairment and a high association with autism spectrum disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). Atypical visual attention is a feature of FXS, ASD, and ADHD. Thus, studying early attentional patterns in young…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, Symptoms (Individual Disorders)
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
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
Robert Klitzman; Ekaterina Bezborodko; Wendy K. Chung; Paul S. Appelbaum – Journal of Autism and Developmental Disorders, 2025
To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…
Descriptors: Genetic Disorders, Screening Tests, Autism Spectrum Disorders, Neurodevelopmental Disorders
Rebecca M. Pollak; Michael Mortillo; Melissa M. Murphy; Jennifer G. Mulle – Journal of Autism and Developmental Disorders, 2025
3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior…
Descriptors: Genetic Disorders, Neurodevelopmental Disorders, Behavior Disorders, Symptoms (Individual Disorders)
