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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
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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)
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Do, Thuy Quynh N.; Riley, Catharine; Paramsothy, Pangaja; Ouyang, Lijing; Bolen, Julie; Grosse, Scott D. – American Journal on Intellectual and Developmental Disabilities, 2020
Using national data, we examined emergency department (ED) encounters during 2006-2011 for which a diagnosis code for fragile X syndrome (FXS) was present (n = 7,217). Almost half of ED visits coded for FXS resulted in hospitalization, which is much higher than for ED visits not coded for FXS. ED visits among females coded for FXS were slightly…
Descriptors: Hospitals, Genetic Disorders, Gender Differences, At Risk Persons
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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
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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
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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
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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
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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
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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
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Wheeler, Anne C.; Wylie, Amanda; Raspa, Melissa; Villagomez, Adrienne; Miller, Kylee; Edwards, Anne; DeRamus, Margaret; Appelbaum, Paul S.; Bailey, Donald B., Jr. – Journal of Autism and Developmental Disorders, 2020
Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants…
Descriptors: Informed Consent, Genetic Disorders, Intellectual Disability, Decision Making
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Ethridge, Lauren; Thaliath, Andrew; Kraff, Jeremy; Nijhawan, Karan; Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2020
Auditory processing abnormalities in fragile X syndrome (FXS) may contribute to difficulties with language development, pattern identification, and contextual updating. Participants with FXS (N = 41) and controls (N = 27) underwent auditory event-related potentials during presentation of an oddball paradigm. Data was adequate for analysis for 33…
Descriptors: Auditory Perception, Cognitive Processes, Neurological Impairments, Genetic Disorders
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Van Remmerden, M. C.; Hoogland, L.; Mous, S. E.; Dierckx, B.; Coesmans, M.; Moll, H. A.; Lubbers, K.; Lincken, C. R.; Van Eeghen, A. M. – Journal of Autism and Developmental Disorders, 2020
Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the…
Descriptors: Genetic Disorders, Intellectual Disability, Young Adults, Classification
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Fitzpatrick, Sarah E.; Schmitt, Lauren M.; Adams, Ryan; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Sage, Jessica; Weber, Jayne Dixon; Dominick, Kelli C.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2020
To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents…
Descriptors: Genetic Disorders, Children, Quality of Life, Autism
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Zapata, Mercedes A. – Journal of Visual Impairment & Blindness, 2020
Introduction: In this study, the author examined the association between general self-efficacy (GSE) and employment status in working-age adults with retinitis pigmentosa (RP; N = 183). The author further examined the associations between employment status and factors that were previously found to be linked to employment outcomes in individuals…
Descriptors: Self Efficacy, Employment Level, Adults, Visual Impairments
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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
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