scholarly journals Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

2017 ◽  
Vol 19 (12) ◽  
pp. 1380-1380 ◽  
Author(s):  
Sureni V Mullegama ◽  
Steven D Klein ◽  
Dzung C Nguyen ◽  
Arang Kim ◽  
Rebecca Signer ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Towards Mechanism-Based Treatments for Fragile X Syndrome

2019 ◽  
Vol 9 (8) ◽  
pp. 202
Author(s):  
Daman Kumari ◽  
Inbal Gazy
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000–8000 people worldwide [...]

scholarly journals BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

2020 ◽  
Vol 41 (5) ◽  
pp. 921-925 ◽  
Author(s):  
Tiana M. Scott ◽  
Hui Guo ◽  
Evan E. Eichler ◽  
Jill A. Rosenfeld ◽  
Kaifang Pang ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Narrative skill in boys with fragile X syndrome with and without autism spectrum disorder

2011 ◽  
Vol 32 (2) ◽  
pp. 359-388 ◽  
Author(s):  
BRUNO ESTIGARRIBIA ◽  
GARY E. MARTIN ◽  
JOANNE E. ROBERTS ◽  
AMY SPENCER ◽  
AGNIESZKA GUCWA ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Short Term Memory ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Story Grammar ◽  
Caregiver Education ◽  
Almost All

ABSTRACTWe examined recalled narratives of boys with fragile X syndrome with autism spectrum disorder (FXS-ASD; N = 28) and without ASD (FXS-O; N = 29), and compared them to those of boys with Down syndrome (N = 33) and typically developing (TD) boys (N = 39). Narratives were scored for mentions of macrostructural story grammar elements (introduction, relationship, initiating events, internal response, attempts/actions, and ending). We found that narrative recall is predicted by short-term memory and nonverbal mental age levels in almost all groups (except TD), but not by expressive syntax or caregiver education. After adjusting for these covariates, there were no differences between the three groups with intellectual disability. The FXS-ASD group, however, had significantly poorer performance than the TD group on the overall story grammar score, and both the FXS-O and FXS-ASD groups had lower attempts/actions scores than the TD group. We conclude that some form of narrative impairment may be associated with FXS, that this impairment may be shared by other forms of intellectual disability, and that the presence of ASD has a significantly detrimental effect on narrative recall.

scholarly journals Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder 

2020 ◽  
Author(s):  
Yinghong Lu ◽  
Yi Liang ◽  
Sisi Ning ◽  
Guosheng Deng ◽  
Yulin Xie ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
High Resolution ◽  
Developmental Delay ◽  
Motor Development ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Partial Trisomy ◽  
Autism Spectrum ◽  
Spectrum Disorder

Abstract Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs. Case presentation: An 11-month-old infant with an sSMC fond by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability. Conclusion: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder

Gene ◽  
2021 ◽  
Vol 768 ◽  
pp. 145260
Author(s):  
Melanie Brugger ◽  
Theresa Brunet ◽  
Matias Wagner ◽  
Laura Elena Orec ◽  
Eva Maria Christina Schwaibold ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Locus Heterogeneity

A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder

2016 ◽  
Vol 121 (6) ◽  
pp. 465-486 ◽  
Author(s):  
Joanna Moss ◽  
Lisa Nelson ◽  
Laurie Powis ◽  
Jane Waite ◽  
Caroline Richards ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Selective Mutism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange

Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

Putting Into Perspective the Use of the Fmr1 Knockout Mouse as a Model for Autism Spectrum Disorder

2013 ◽  
Author(s):  
Richard Paylor ◽  
Alexia M. Thomas ◽  
Surabi Veeraragavan ◽  
Corinne M. Spencer
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
Fragile X Syndrome ◽  
Knockout Mouse ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Fmr1 Gene ◽  
Not Otherwise Specified ◽  
Fmr1 Knockout Mouse

Chapter 7 is concerned with the presence of autism spectrum disorder (ASD) in individuals with Fragile X Syndrome (FXS). It is estimated that 21–50% of individuals with FXS meet the criteria for autism or autism with pervasive developmental delay not otherwise specified. Importantly, recent findings indicate that approximately 2–6% of individuals with ASDs have a mutation in the FMR1 gene, making it one of the most significant single genes associated with the presence of ASD.

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