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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)
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
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
Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome
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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
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents
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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
Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome
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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
Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends over a Decade
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Usher, Lauren V.; DaWalt, Leann S.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R. – Journal of Autism and Developmental Disorders, 2020
This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling…
Descriptors: Adolescents, Adults, Genetic Disorders, Gender Differences
Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis
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Eckert, Eleanor M.; Dominick, Kelli C.; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Andrews, Howard; Choo, Tse-Hwei; Chen, Chen; Kaufmann, Walter E.; Tartaglia, Nicole; Berry-Kravis, Elizabeth M.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2019
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…
Descriptors: Genetic Disorders, Self Destructive Behavior, Aggression, Behavior Problems
Autism Spectrum Symptomatology among Children with Duplication 7q11.23 Syndrome
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Klein-Tasman, Bonita P.; Mervis, Carolyn B. – Journal of Autism and Developmental Disorders, 2018
Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. ("Neuron" 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism…
Descriptors: Autism, Pervasive Developmental Disorders, Clinical Diagnosis, Age Differences
Brief Report: Systematic Review of Rett Syndrome in Males
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Reichow, Brian; George-Puskar, Annie; Lutz, Tara; Smith, Isaac C.; Volkmar, Fred R. – Journal of Autism and Developmental Disorders, 2015
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2…
Descriptors: Genetic Disorders, Neurological Impairments, Child Development, Gender Differences
Comparing Parental Well-Being and Its Determinants across Three Different Genetic Disorders Causing Intellectual Disability
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Mori, Yuka; Downs, Jenny; Wong, Kingsley; Heyworth, Jane; Leonard, Helen – Journal of Autism and Developmental Disorders, 2018
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…
Descriptors: Intellectual Disability, Well Being, Genetic Disorders, Multivariate Analysis
Characteristics of Autism Spectrum Disorder in Sotos Syndrome
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Lane, Chloe; Milne, Elizabeth; Freeth, Megan – Journal of Autism and Developmental Disorders, 2017
Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33%) met clinical cut-off…
Descriptors: Autism, Pervasive Developmental Disorders, Incidence, Symptoms (Individual Disorders)
DSM-5 Changes and the Prevalence of Parent-Reported Autism Spectrum Symptoms in Fragile X Syndrome
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Wheeler, Anne C.; Mussey, Joanna; Villagomez, Adrienne; Bishop, Ellen; Raspa, Melissa; Edwards, Anne; Bodfish, James; Bann, Carla; Bailey, Donald B. – Journal of Autism and Developmental Disorders, 2015
We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses.…
Descriptors: Genetic Disorders, Autism, Pervasive Developmental Disorders, Symptoms (Individual Disorders)
Change in the Behavioral Phenotype of Adolescents and Adults with FXS: Role of the Family Environment
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Smith, Leann E.; Hong, Jinkuk; Greenberg, Jan S.; Mailick, Marsha R. – Journal of Autism and Developmental Disorders, 2016
The present study examined trajectories of adaptive behavior, behavior problems, psychological symptoms, and autism symptoms in adolescents and adults with fragile X syndrome (n = 147) over a three-year period. Adaptive behavior significantly increased over time, particularly for adolescents, and the severity of behavior problems decreased over…
Descriptors: Family Environment, Behavior Change, Family Role, Adolescents
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