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Understanding the Process of Family Cancer History Collection and Health Information Seeking
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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
Sex- and Age-Related Differences in Autistic Behaviours in Children with Neurofibromatosis Type 1
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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)
Determining Rates of Genetic Testing in the Evaluation of Autism Spectrum Disorder and Intellectual and Developmental Disorder
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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
Family-Based Cohort Association Study of "PRKCB1," "CBLN1" and "KCNMB4" Gene Polymorphisms and Autism in Polish Population
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Iwanicki, Tomasz; Balcerzyk, Anna; Kazek, Beata; Emich-Widera, Ewa; Likus, Wirginia; Iwanicka, Joanna; Kapinos-Gorczyca, Agnieszka; Kapinos, Maciej; Jarosz, Alicja; Grzeszczak, Wladyslaw; Górczynska-Kosiorz, Sylwia; Niemiec, Pawel – Journal of Autism and Developmental Disorders, 2022
The aim of the study was to perform family-based association analysis of "PRKCB1," "CBLN1" and "KCNMB4" gene polymorphisms and autism disorder. We comprised 206 Caucasian children with autistic spectrum disorder (ASD) and their biological parents. In transmission/disequilibrium test we observed that T-allele of the…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Whites, Children
Narrative Analysis in Adolescents with Fragile X Syndrome
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Neal, Corinne N.; Brady, Nancy C.; Fleming, Kandace K. – American Journal on Intellectual and Developmental Disabilities, 2022
This study analyzed narratives of male and female adolescents with fragile X syndrome (FXS). The impact of structural language, cognition and autism symptomatology on narrative skills and the association between narratives and literacy were examined. Narratives from 32 adolescents with FXS (24 males, 8 females) were analyzed for macrostructure.…
Descriptors: Adolescents, Genetic Disorders, Gender Differences, Autism
Visual-Motor Integration Deficits in 3q29 Deletion Syndrome
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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
Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the Forward Registry and Database Multisite Study
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Ave M. Lachiewicz; Tracy M. Stackhouse; Kristin Burgess; Debra Burgess; Howard F. Andrews; Tse-Hwei Choo; Walter E. Kaufmann; Sharon A. Kidd – Journal of Autism and Developmental Disorders, 2024
This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…
Descriptors: Sensory Experience, Symptoms (Individual Disorders), Genetic Disorders, Arousal Patterns
The Importance of School Leadership Support When Working with Students with Smith-Magenis Syndrome -- A Q Methodology Study
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Nag, Heidi; Naerland, Terje; Øverland, Klara – International Journal of Disability, Development and Education, 2023
Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person's learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts…
Descriptors: Genetic Disorders, Students with Disabilities, Behavior Problems, School Personnel
Parental Responsivity and Child Communication during Mother-Child and Father-Child Interactions in Fragile X Syndrome
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Sarah Nelson Potter; Danielle Harvey; Audra Sterling; Leonard Abbeduto – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother--child relationship.…
Descriptors: Family (Sociological Unit), Parents, Parent Participation, Parent Child Relationship