Autism spectrum disorder and genetic syndromes: Application of novel genetic knowledge for genetic diagnosis

2012 ◽  
Vol 60 (5) ◽  
pp. S213
Author(s):  
M. Ducloy ◽  
M. Bouvard ◽  
F. Galibert
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Knowledge ◽  
Genetic Syndromes

The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

2020 ◽  
Author(s):  
Brendan E. Karba ◽  
Jean-Francois Lemay ◽  
Scott A. McLeod
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Diagnosis ◽  
Receptive Language ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Nasal Bridge ◽  
Clinical Dilemma

AbstractWe report on a 3-year-old girl with the presence of trigonocephaly, broad nasal bridge, flattened occiput, and midface hypoplasia. Formal assessment of her development profile demonstrated expressive and receptive language delays, fine and gross motor delays, and no imaginative or symbolic representative play. Investigation of the etiology of her developmental delays revealed a genetic diagnosis of a 9p24 deletion by chromosomal microarray analysis. The possibility of an additional co-occurring disorder of autism spectrum disorder (ASD) was also raised by a referring clinician. This case highlights the clinical dilemma of diagnosing ASD in those with existing genetic syndromes.

scholarly journals The role of genetic research in autism treatment Phelan-McDermid syndrome: Sasha’s story

2016 ◽  
Vol 14 (2) ◽  
pp. 13-19
Author(s):  
N.V. Solovyeva ◽  
N.S. Kitsul
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Research ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Autism Treatment ◽  
The Brain

Different syndromes hide under the mask of autism. Each is caused by a certain genetic fault disturbing the development of the brain and leading to symptoms of autism showing. A correctly done genetic diagnosis helps to avoid mistakes when choosing a way of treatment. The focus of this article is Phelan-McDermid Syndrome, an autism spectrum disorder. The clinical example provided is Sasha’s story: how his treatment changed after specifying the diagnosis.

scholarly journals The Genetics of Autism Spectrum Disorder- A Review

2021 ◽  
Vol 39 (3) ◽  
pp. 193-199
Author(s):  
Gopen Kumar Kundu ◽  
Rumana Islam
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Factors ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Significant Advance ◽  
Genetic Syndrome ◽  
The Family ◽  
Diagnostic Framework

Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders representing deficits in socialization, communication impairment, repetitive patterns of behaviors and/or restricted interest. The increasing prevalence of ASD worldwide is most likely due to increasing awareness, widening of the diagnostic concepts and availability of diagnostic framework. It is a genetically influenced disorders caused by factors including genetic, epigenetic factors that affect gene expression and activity and non-genetic factors like environmental exposures. It is widely thought to represent a disorder of connectivity, in which the environment interacts with the genome. It can occur as an association with genetic syndrome, can occur sporadically or may be familial. Recognizing various phenotypic manifestations, it is understood that the underlying etiology of ASD is complex and genetic factors play an important role. The most significant advance in autism biology over the last decade has been in understanding the genetics of autism. The genetic diagnosis can benefit patients and the family by providing information, psychological support both immediate and long term and also can guide and help to prepare for the future. So, genetic diagnosis of ASD may offer opportunities for the identification of molecular targets for novel interventions, and provide new insight for families seeking genetic counseling. J Bangladesh Coll Phys Surg 2021; 39(3): 193-199

Social Behavior and Characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange, and Cri du Chat Syndromes

2013 ◽  
Vol 118 (4) ◽  
pp. 262-283 ◽  
Author(s):  
Joanna Moss ◽  
Patricia Howlin ◽  
Richard Patrick Hastings ◽  
Sarah Beaumont ◽  
Gemma M. Griffith ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Social Communication ◽  
Social Motivation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Syndromes ◽  
The Social ◽  
Cornelia De Lange ◽  
Behavior Profiles

Abstract We evaluated autism spectrum disorder (ASD) characteristics and social behavior in Angelman (AS; n  =  19; mean age  = 10.35 years), Cornelia de Lange (CdLS; n  =  15; mean age  = 12.40 years), and Cri du Chat (CdCS, also known as 5 p-syndrome; n  =  19; mean age  =  8.80 years) syndromes. The proportion of individuals meeting the ASD cutoff on the Social Communication Questionnaire was significantly higher in the AS and CdLS groups than in the CdCS group (p < .01). The groups demonstrated divergent social behavior profiles during social conditions in which adult availability, adult familiarity, and social demand were manipulated. Social enjoyment was significantly heightened in AS, whereas social approaches were heightened in individuals with CdCS. Social motivation, social communication, and enjoyment were significantly lower in CdLS. The findings highlight the importance of detailed observation when evaluating ASD and social behavior in genetic syndromes.

Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes

2013 ◽  
Vol 118 (1) ◽  
pp. 55-73 ◽  
Author(s):  
Joanna Moss ◽  
Chris Oliver ◽  
Lisa Nelson ◽  
Caroline Richards ◽  
Scott Hall
Keyword(s):  
Autism Spectrum Disorder ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange Syndrome ◽  
Genetic Syndromes ◽  
The Social ◽  
Cornelia De Lange ◽  
Atypical Autism

Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n  =  130, M age  =  17.19), Fragile X syndrome (n  =  182, M age  =  16.94), and autism spectrum disorder (n  =  142, M age  =  15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population.

scholarly journals Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria Cerminara ◽  
Giovanni Spirito ◽  
Livia Pisciotta ◽  
Margherita Squillario ◽  
Martina Servetti ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Tryptophan Hydroxylase ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
First Case ◽  
Whole Exome

Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the tendency to consider the multiple symptoms as the presentation of a complicated syndromic form. This view influences variant filtering which might ignore causative variants for specific clinical features shown by the patient. Here we report on a male child diagnosed with ASD, showing cognitive and motor impairments, stereotypies, hyperactivity, sleep, and gastrointestinal disturbances. The analysis of whole exome sequencing (WES) data with bioinformatic tools for oligogenic diseases helped us to identify two major previously unreported pathogenetic variants: a maternally inherited missense variant (p.R4122H) in HUWE1, an ubiquitin protein ligase associated to X-linked intellectual disability and ASD; and a de novo stop variant (p.Q259X) in TPH2, encoding the tryptophan hydroxylase 2 enzyme involved in serotonin synthesis and associated with susceptibility to attention deficit-hyperactivity disorder (ADHD). TPH2, expressed in central and peripheral nervous tissues, modulates various physiological functions, including gut motility and sleep. To the best of our knowledge, this is the first case presenting with ASD, cognitive impairment, sleep, and gastrointestinal disturbances linked to both HUWE1 and TPH2 genes. Our findings could contribute to the existing knowledge on clinical and genetic diagnosis of patients with ASD presentation with comorbidities.

scholarly journals Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results

2021 ◽  
Vol 10 (21) ◽  
pp. 5060
Author(s):  
Carla Lintas ◽  
Roberto Sacco ◽  
Alessia Azzarà ◽  
Ilaria Cassano ◽  
Fiorella Gurrieri
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genetic Diagnosis ◽  
Final Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Novel Genes ◽  
Clinical Geneticist ◽  
Genetic Test Results

ASD genetic diagnosis has dramatically improved due to NGS technologies, and many new causative genes have been discovered. Consequently, new ASD phenotypes have emerged. An extensive exome sequencing study carried out by the Autism Sequencing Consortium (ASC) was published in February 2020. The study identified 102 genes which are de novo mutated in subjects affected by autism spectrum disorder (ASD) or similar neurodevelopmental disorders (NDDs). The majority of these genes was already known to be implicated in ASD or NDDs, whereas approximately 30 genes were considered “novel” as either they were not previously associated with ASD/NDDs or very little information about them was present in the literature. The aim of this work is to review the current literature since the publication of the ASC paper to see if new data mainly concerning genotype–phenotype correlations of the novel genes have been added to the existing one. We found new important clinical and molecular data for 6 of the 30 novel genes. Though the broad and overlapping neurodevelopmental phenotypes observed in most monogenic forms of NDDs make it difficult for the clinical geneticist to address gene-specific tests, knowledge of these new data can at least help to prioritize and interpret results of pangenomic tests to some extent. Indeed, for some of the new emerging genes analyzed in the present work, specific clinical features emerged that may help the clinical geneticist to make the final diagnosis by associating the genetic test results with the phenotype. The importance of this relatively new approach known as “reverse phenotyping” will be discussed.

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