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Direct linkGiovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental 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
Irene 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
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
Breanne J. Byiers; Alyssa M. Merbler; Chantel C. Burkitt; Frank J. Symons – American Journal on Intellectual and Developmental Disabilities, 2025
Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…
Descriptors: Sleep, Neurodevelopmental Disorders, Psychomotor Skills, Genetic 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)
Kyla Arcebido; Emily Val Tuliao; Andryella Maxie Ibarra; Kai Russell; Aracelly Valdes; Sohum Shinkre; Samantha Gefen; Amelia Evans; Sabrina Barella; Joelle Wadei; Isabella Quinon; Takahiro Soda – Autism: The International Journal of Research and Practice, 2025
Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Neurodevelopmental Disorders, Databases
Rebecca M. Pollak; T. Lindsey Burrell; Joseph F. Cubells; Cheryl Klaiman; Melissa M. Murphy; Celine A. Saulnier; Elaine F. Walker; Stormi Pulver White; Jennifer G. Mulle – Journal of Autism and Developmental Disorders, 2024
3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were…
Descriptors: Genetic Disorders, Neurodevelopmental Disorders, Psychomotor Skills, Visual Perception
