scholarly journals BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021 ◽  
Author(s):  
Angela Peron ◽  
Felice D’Arco ◽  
Kimberly A. Aldinger ◽  
Constance Smith-Hicks ◽  
Christiane Zweier ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Developmental Disorder ◽  
Brain Mri ◽  
Fetal Hemoglobin ◽  
Clinical Information ◽  
Autism Spectrum ◽  
Behavioral Abnormalities ◽  
Depth Analysis ◽  
Vermian Hypoplasia ◽  
Intellectual Developmental Disorder

AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splice-site, 17 stop-gain) and 8 unique CNVs (microdeletions involving BCL11A only). We redefined the most frequent manifestations of the condition: intellectual disability, hypotonia, behavioral abnormalities, postnatal microcephaly and autism spectrum disorder. Two thirds of patients have brain MRI abnormalities, and we identified a recurrent posterior fossa phenotype of vermian hypoplasia and/or small brainstem. Truncating BCL11A variants, particularly those affecting the long (BCL11A-L) and extra-long (-XL) isoforms, sparing the short (-S) isoform, were associated with increased severity.ConclusionsWe expand the clinical delineation of BCL11A-IDD and identify a potential isoform-specific genotype-phenotype correlation. We show that BCL11A-IDD is associated with posterior fossa anomalies and highlight the differences between BCL11A-IDD and 2p16.1p15 microdeletion syndrome.

The diagnostic boundary between autism spectrum disorder, intellectual developmental disorder and schizophrenia spectrum disorders

2015 ◽  
Vol 9 (5) ◽  
pp. 243-264 ◽  
Author(s):  
Marco O. Bertelli ◽  
Micaela Piva Merli ◽  
Elspeth Bradley ◽  
Roberto Keller ◽  
Niccolò Varrucciu ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Clinical Practice ◽  
Developmental Disorder ◽  
Clinical Presentation ◽  
Autism Spectrum ◽  
Schizophrenia Spectrum Disorders ◽  
Content Type ◽  
Schizophrenia Spectrum ◽  
Spectrum Disorders ◽  
Intellectual Developmental Disorder

Purpose – During the last few years the prevalence of autism and Autism Spectrum Disorder (ASD) has increased greatly. A recurring issue is the overlap and boundaries between Intellectual Developmental Disorder (IDD), ASD and Schizophrenia Spectrum Disorders (SSD). In clinical practice with people with IDD, the alternative or adjunctive diagnosis of ASD or SSD is particularly challenging. The purpose of this paper is to define the boundaries and overlapping clinical characteristics of IDD, ASD and SSD; highlight the most relevant differences in clinical presentation; and provide a clinical framework within which to recognize the impact of IDD and ASD in the diagnosis of SSD. Design/methodology/approach – A systematic mapping of the international literature was conducted on the basis of the following questions: first, what are considered to be core and overlapping aspects of IDD, ASD and SSD; second, what are the main issues in clinical practice; and third, can key diagnostic flags be identified to assist in differentiating between the three diagnostic categories? Findings – Crucial clinical aspects for the differentiation resulted to be age of onset, interest towards others, main positive symptoms, and anatomical anomalies of the central nervous system. More robust diagnostic criteria and semeiological references are desirable. Originality/value – The present literature mapping provides a comprehensive description of the most relevant differences in the clinical presentation of ASD and SSD in persons with IDD.

scholarly journals Neurodevelopmental disorder in dsm-5 from manual to clinical practice

2017 ◽  
Vol 1 (1) ◽  
pp. 13
Author(s):  
Turki Homod Albatti
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Intellectual Disability ◽  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Developmental Disorder ◽  
Autism Spectrum ◽  
Hyperactivity Disorder ◽  
Dsm 5 ◽  
Intellectual Developmental Disorder

The new Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) has a number of changes to what used to be disorders first diagnosed in childhood or infancy. This lecture outlines some of the major changes to these   conditions. According to the American Psychiatric Association (APA), the publisher of the DSM-5, this chapter from the DSM-IV has been superseded by a new chapter entitled, ‘Neurodevelopmental Disorders’ The new chapter includes intellectual  disability (Intellectual Developmental Disorder), communication disorders, autism spectrum disorder, attention deficit hyperactivity disorder, Specific learning disorder and motor disorders. The Neurodevelopmental Disorders section replaces the   outmoded term mental retardation with intellectual disability (intellectual developmental disorder) and defines levels of severity based on adaptive functioning and not IQ scores. Attention-deficit hyperactivity disorder (ADHD) is newly placed in the Neurodevelopmental Disorders section in DSM-5, whereas it was classified with disruptive behavior disorders in DSMIV. The biggest change in the Neurodevelopmental Disorders section in DSM-5 is the creation of a new category, Autism Spectrum Disorder, along with the elimination of the DSMIV diagnostic  category Pervasive Developmental Disorder and its subgroupings. ASD is characterized by deficits in two core domains instead of three as in DSMIV. other changes will be explain.

scholarly journals Clinical Profile of Children with Intellectual Developmental Disorder Institution Based Cross Sectional Study

2016 ◽  
Vol 4 (1) ◽  
Author(s):  
Varsha vidyadharan ◽  
Teena Mary Joy ◽  
P.S. Sukumaran
Keyword(s):  
Autism Spectrum Disorders ◽  
Family History ◽  
Diagnostic Tool ◽  
Developmental Disorder ◽  
Autism Spectrum ◽  
Clinical Profile ◽  
Social Maturity ◽  
History Of ◽  
Spectrum Disorders ◽  
Intellectual Developmental Disorder

Background : Intellectual Developmental Disorder (IDD) has overall prevalence of 1-3% in the global scenario. It also produces psychological, social and financial distress to the whole family and society, and the chance of co-morbid psychiatric disorders are high. This study aimed to assess the socio demographic profile of children with IDD, clinical profile, social maturity quotient, extent of medical and psychiatric co morbidities like neuromotor impairment, autism spectrum disorders, attention deficit hyperactivity disorder, and to compare these children based on age and sex to see whether there is any difference in manifestations between child and adolescent group and to understand burden of behavioural problems in these children. Materials and methods:  By descriptive research methodology, sample of 100 children with intellectual disability attending a special school in Calicut, Kerala evaluated using a specially designed proforma, written informant consent, questionnaire to be filled by parents, INCLEN diagnostic tool for neuro motor impairment, INCLEN diagnostic tool for autism spectrum disorders, INCLEN diagnostic tool for ADHD, AAMD adaptive behavioural scale revised, VINELANDS social maturity scale. Data analysed with appropriate statistical tests and results obtained were interpreted accordingly. Results: Prevalence of IDD was more in males. Mean social quotient observed was 48.79+_16.79.Developmental delay in all spheres of development was reported in 96 percent of sample population. Family history of IDD was reported in 20 percent of sample. Most common medical co morbidity noted was seizure disorder. Psychiatric co morbidities were less reported in children with Down syndrome. Increased chance of neuromotor impairment was found in children with family history of IDD. Children with comorbid medical disorders were found to have increased chance of neuromotor impairment. Pervasive developmental disorders and ADHD was reported. Odd behaviour was the most common behavioural problem reported. Conclusions:  Detailed study of clinical profile of children with IDD has implications in early identification, intervention, management and prevention of same.

scholarly journals Intellectual developmental disorder and autism spectrum disorder in the WPA next triennium mainstream

2020 ◽  
Vol 19 (2) ◽  
pp. 260-260 ◽  
Author(s):  
Marco O. Bertelli ◽  
Luis Salvador‐Carulla ◽  
Kerim M. Munir ◽  
Maria Luisa Scattoni ◽  
Muhammad  Waqar Azeem ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Intellectual Developmental Disorder

Influence of Next-Generation Sequencing on Advancements in the Diagnosis of Major Psychiatric Diseases - A Review

2020 ◽  
Author(s):  
Maheen Nisar
Keyword(s):  
Next Generation Sequencing ◽  
Mental Disorders ◽  
Attention Deficit Disorder ◽  
Autism Spectrum ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
New Genes ◽  
Depth Analysis ◽  
Pubmed Search ◽  
Generation Sequencing

Rapid progress is being made in the development of next-generation sequencing (NGS) technologies, allowing repeated findings of new genes and a more in-depth analysis of genetic polymorphisms behind the pathogenesis of a disease. In a field such as psychiatry, characteristic of vague and highly variable somatic manifestations, these technologies have brought great advances towards diagnosing various psychiatric and mental disorders, identifying high-risk individuals and towards more effective corresponding treatment. Psychiatry has the difficult task of diagnosing and treating mental disorders without being able to invariably and definitively establish the properties of its illness. This calls for diagnostic technologies that go beyond the traditional ways of gene manipulation to more advanced methods mainly focusing on new gene polymorphism discoveries, one of them being NGS. This enables the identification of hundreds of common and rare genetic variations contributing to behavioral and psychological conditions. Clinical NGS has been useful to detect copy number and single nucleotide variants and to identify structural rearrangements that have been challenging for standard bioinformatics algorithms. The main objective of this article is to review the recent applications of NGS in the diagnosis of major psychiatric disorders, and hence gauge the extent of its impact in the field. A comprehensive PubMed search was conducted and papers published from 2013-2018 were included, using the keywords, “schizophrenia” or “bipolar disorder” or “depressive disorder” or “attention deficit disorder” or “autism spectrum disorder” and “next-generation sequencing”

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