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Similar Gap-Overlap Profiles in Children with Fragile X Syndrome and IQ-Matched Autism
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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)
The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome
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Campbell, L. E.; Swaab, L.; Freeman, E. E.; McCormack, L.; Simon, T. J.; Angkustsiri, K.; McCabe, K. L. – Journal of Autism and Developmental Disorders, 2022
Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4022) with a confirmed…
Descriptors: Individual Differences, Emotional Response, Genetic Disorders, Behavior
Brief Report: Sensory Features Associated with Autism after Controlling for ADHD Symptoms
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Ellen C. Masters; Kevin M. Antshel; Wendy R. Kates; Natalie Russo – Journal of Autism and Developmental Disorders, 2025
Background: Sensory processing differences are reported both in children with ADHD and in children with autism. Given the substantial overlap between autism and ADHD, the current study examined which sensory features were uniquely predictive of autistic traits after controlling for ADHD symptoms, age, IQ, and sex in a sample of children and…
Descriptors: Attention Deficit Hyperactivity Disorder, Symptoms (Individual Disorders), Sensory Integration, Autism Spectrum Disorders
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
Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families
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LaBianca, Sonja; LaBianca, Jette; Pagsberg, Anne Katrine; Jakobsen, Klaus Damgaard; Appadurai, Vivek; Buil, Alfonso; Werge, Thomas – Journal of Autism and Developmental Disorders, 2021
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we…
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Comorbidity
The Cognitive and Behavioral Phenotypes of Individuals with "CHRNA7" Duplications
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Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P. – Journal of Autism and Developmental Disorders, 2017
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…
Descriptors: Children, Genetics, Developmental Delays, Intellectual Disability
Longitudinal Differences in Response to Name among Infants Developing ASD and Risk for ADHD
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Hatch, Burt; Iosif, Ana-Maria; Chuang, Annie; de la Paz, Leiana; Ozonoff, Sally; Miller, Meghan – Journal of Autism and Developmental Disorders, 2021
Diminished response to name, a potential early marker of autism spectrum disorder (ASD), may also indicate risk for other disorders characterized by attention problems, including attention-deficit/hyperactivity disorder (ADHD). Using a familial risk design, we examined whether response to name ability at 6, 12, 18, 24, and 36 months of age…
Descriptors: Longitudinal Studies, Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
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Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela – Journal of Autism and Developmental Disorders, 2021
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…
Descriptors: Foreign Countries, Mexicans, Clinical Diagnosis, Genetic Disorders
DNA Methylation of the Oxytocin Receptor across Neurodevelopmental Disorders
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Siu, Michelle T.; Goodman, Sarah J.; Yellan, Isaac; Butcher, Darci T.; Jangjoo, Maryam; Grafodatskaya, Daria; Rajendram, Rageen; Lou, Youliang; Zhang, Rujun; Zhao, Chunhua; Nicolson, Rob; Georgiades, Stelios; Szatmari, Peter; Scherer, Stephen W.; Roberts, Wendy; Anagnostou, Evdokia; Weksberg, Rosanna – Journal of Autism and Developmental Disorders, 2021
Many neurodevelopmental disorders (NDDs) share common learning and behavioural impairments, as well as features such as dysregulation of the oxytocin hormone. Here, we examined DNA methylation (DNAm) in the 1st intron of the oxytocin receptor gene, "OXTR," in patients with autism spectrum (ASD), attention deficit and hyperactivity (ADHD)…
Descriptors: Genetics, Autism, Pervasive Developmental Disorders, Biochemistry
Brief Report:MECP2 Mutations in People without Rett Syndrome
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Suter, Bernhard; Treadwell-Deering, Diane; Zoghbi, Huda Y.; Glaze, Daniel G.; Neul, Jeffrey L. – Journal of Autism and Developmental Disorders, 2014
Mutations in "Methyl-CpG-Binding protein 2" ("MECP2") are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in "MECP2," and interestingly there have been people identified with "MECP2" mutations that do not have the clinical…
Descriptors: Genetics, Genetic Disorders, Neurological Impairments, Patients
2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study
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Myers, Lynnea; van't Westeinde, Annelies; Kuja-Halkola, Ralf; Tammimies, Kristiina; Bölte, Sven – Journal of Autism and Developmental Disorders, 2018
The second to fourth digit (2D:4D) ratio is of interest in autism spectrum disorder (ASD). Studies on the relationship of this ratio with other neurodevelopmental disorders (NDDs) are lacking. Investigating the association between the ratio and NDDs in twins can provide insight into genetic and/or environmental factors driving the ratio. Hand…
Descriptors: Twins, Autism, Pervasive Developmental Disorders, Correlation
Brief Report: Clusters and Trajectories across the Autism and/or ADHD Spectrum
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LaBianca, S.; Pagsberg, A. K.; Jakobsen, K. D.; Demur, A. B.; Bartalan, M.; LaBianca, J.; Werge, T. – Journal of Autism and Developmental Disorders, 2018
Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) frequently co-occur and show high genetic correlation. With the introduction of DSM-5, there is a new concept of an ASD and/or ADHD spectrum (ASD/ADHD). This study aimed to identify predictors of severity and need of healthcare within this spectrum. 39 families with…
Descriptors: Pervasive Developmental Disorders, Autism, Attention Deficit Hyperactivity Disorder, Correlation
Quantitative Linkage for Autism Spectrum Disorders Symptoms in Attention-Deficit/Hyperactivity Disorder: Significant Locus on Chromosome 7q11
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Nijmeijer, Judith S.; Arias-Vásquez, Alejandro; Rommelse, Nanda N.; Altink, Marieke E.; Buschgens, Cathelijne J.; Fliers, Ellen A.; Franke, Barbara; Minderaa, Ruud B.; Sergeant, Joseph A.; Buitelaar, Jan K.; Hoekstra, Pieter J.; Hartman, Catharina A. – Journal of Autism and Developmental Disorders, 2014
We studied 261 ADHD probands and 354 of their siblings to assess quantitative trait loci associated with autism spectrum disorder symptoms (as measured by the Children's Social Behavior Questionnaire (CSBQ) using a genome-wide linkage approach, followed by locus-wide association analysis. A genome-wide significant locus for the CSBQ subscale…
Descriptors: Attention Deficit Hyperactivity Disorder, Comorbidity, Siblings, Autism
Simplex and Multiplex Stratification in ASD and ADHD Families: A Promising Approach for Identifying Overlapping and Unique Underpinnings of ASD and ADHD?
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Oerlemans, Anoek M.; Hartman, Catharina A.; De Bruijn, Yvette G. E.; Van Steijn, Daphne J.; Franke, Barbara; Buitelaar, Jan K.; Rommelse, Nanda N. J. – Journal of Autism and Developmental Disorders, 2015
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) are highly heterogeneous neuropsychiatric disorders, that frequently co-occur. This study examined whether stratification into single-incidence (SPX) and multi-incidence (MPX) is helpful in (a) parsing heterogeneity and (b) detecting overlapping and unique…
Descriptors: Autism, Pervasive Developmental Disorders, Attention Deficit Hyperactivity Disorder, Genetics
Evaluation of the ADHD Rating Scale in Youth with Autism
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Yerys, Benjamin E.; Nissley-Tsiopinis, Jenelle; de Marchena, Ashley; Watkins, Marley W.; Antezana, Ligia; Power, Thomas J.; Schultz, Robert T. – Journal of Autism and Developmental Disorders, 2017
Scientists and clinicians regularly use clinical screening tools for attention deficit/hyperactivity disorder (ADHD) to assess comorbidity without empirical evidence that these measures are valid in youth with autism spectrum disorder (ASD). We examined the prevalence of youth meeting ADHD criteria on the ADHD rating scale fourth edition…
Descriptors: Rating Scales, Attention Deficit Hyperactivity Disorder, Behavior Problems, Incidence
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