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341 Results Found

  • Article
  • Open Access
6 Citations
3,915 Views
13 Pages

During the period of school–work transition, caregivers of young adults with disorders of intellectual development (ID) often play an extended and leading role in supporting their children. This article explores caregivers’ overall experi...

(This article belongs to the Special Issue Approaches for Preventing Illness and Injury for Individuals with Disabilities and Their Caregivers)
  • Article
  • Open Access
2 Citations
3,862 Views
15 Pages

31 October 2024

Many learners with mild intellectual developmental disorders (IDD) in mainstream primary schools in the Free State Province of South Africa require support to maximise their learning potential and prepare them for work post-school. In this study, a q...

(This article belongs to the Special Issue Cultivating Inclusive Classrooms: Practices in Special Education)
  • Review
  • Open Access
29 Citations
12,590 Views
19 Pages

A Systematic Review and Meta-Analysis of Reading and Writing Interventions for Students with Disorders of Intellectual Development

  • Randi Karine Bakken,
  • Kari-Anne B. Næss,
  • Christopher J. Lemons and
  • Hanne Næss Hjetland

14 October 2021

Students with disorders of intellectual development (ID) experience challenges in reading and writing, indicating the need for research-based interventions. This systematic review and meta-analysis investigated the effects of reading and writing inte...

  • Review
  • Open Access
5 Citations
13,560 Views
18 Pages

22 November 2025

Intellectual disability (ID)—termed intellectual developmental disorder in DSM-5-TR and disorders of intellectual development in ICD-11—is a heterogeneous spectrum of neurodevelopmental conditions characterized by impairments in general i...

(This article belongs to the Section Pediatric Neurology & Neurodevelopmental Disorders)
  • Systematic Review
  • Open Access
7 Citations
7,094 Views
18 Pages

Single-Case Writing Interventions for Students with Disorders of Intellectual Development: A Systematic Review and Meta-Analysis

  • Randi Karine Bakken,
  • Kari-Anne Bottegaard Næss,
  • Veerle Garrels and
  • Åste Mjelve Hagen

9 October 2022

Students with disorders of intellectual development (ID) often experience writing difficulties, and effective interventions are highly needed. This systematic review and meta-analysis of single-case experimental design (SCED) studies summarize the ef...

(This article belongs to the Section Special and Inclusive Education)
  • Article
  • Open Access
2 Citations
2,277 Views
15 Pages

9 January 2025

This study developed and refined the Judo Teachers’ Attitudes Towards Including Participants with Intellectual Developmental Disorders (J-TAID) survey, addressing the need to assess attitudes, subjective norms, perceived behavioral control, and...

  • Systematic Review
  • Open Access
7 Citations
4,993 Views
20 Pages

Sex Education for Individuals with Intellectual Development Disorder (IDD): A Scoping Review

  • Célia Oliveira,
  • Sarah Ozorio,
  • Verónica Gomes,
  • Soraia Araújo and
  • João Lopes

(1) Background: The experience of sexuality by individuals with Intellectual Development Disorder represents a significant challenge for themselves, as well as for parents, educators, and researchers. (2) Methods: Eighteen studies exploring sexual ed...

  • Systematic Review
  • Open Access
6,245 Views
24 Pages

Cognitive Profile of Autism and Intellectual Disorder in Wechsler’s Scales: Meta-Analysis

  • Gustavo Mortari Ferreira,
  • Calliandra Maria de Souza Silva,
  • Alexandre Sampaio Rodrigues Pereira,
  • Larissa Sousa Silva Bonasser,
  • Maria Gabriela do Nascimento Araújo,
  • Marcelly de Oliveira Barros,
  • Roniel Sousa Damasceno,
  • Fauston Negreiros and
  • Izabel Cristina Rodrigues da Silva

Autism spectrum disorder (ASD) and intellectual disability (ID) frequently coexist and share heterogeneous cognitive manifestations, yet their specific performance patterns on Wechsler scales remain poorly systematized. This meta-analysis synthesized...

  • Article
  • Open Access
29 Citations
6,860 Views
12 Pages

The Quality of Life Supports Model as a Vehicle for Implementing Rights

  • Lucía Morán,
  • Laura E. Gómez,
  • Miguel Ángel Verdugo and
  • Robert L. Schalock

28 April 2023

The Quality of Life Supports Model (QOLSM) is emerging as a new framework that is applicable to people with disabilities in general, but specially to people with intellectual and developmental disabilities (IDD). The aim of this conceptual paper is t...

(This article belongs to the Special Issue Quality of Life of People with Intellectual and/or Developmental Disabilities: The Power of Context and Supports)
  • Article
  • Open Access
15 Citations
5,252 Views
17 Pages

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex

  • Mirte Scheper,
  • Alessia Romagnolo,
  • Zein Mersini Besharat,
  • Anand M. Iyer,
  • Romina Moavero,
  • Christoph Hertzberg,
  • Bernhard Weschke,
  • Kate Riney,
  • Martha Feucht and
  • EPISTOP Consortium Members
  • + 20 authors

Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including autism spe...

(This article belongs to the Section Neurobiology and Clinical Neuroscience)
  • Article
  • Open Access
17 Citations
10,012 Views
13 Pages

Challenges and Neuropsychological Functioning in Children and Adolescents with Borderline Intellectual Functioning

  • Heli Sätilä,
  • Laura Mirjami Jolma,
  • Mira Meriläinen-Nipuli and
  • Mikko Koivu-Jolma

28 November 2022

This retrospective chart review study sought to explore neuropsychological profiles, neuropsychiatric and psychiatric comorbidity, changes in diagnoses, support at daycare and school, medication use, psychiatric referrals, and progression into furthe...

(This article belongs to the Special Issue Cognitive and Linguistic Development in Children and Adolescents)
  • Article
  • Open Access
1 Citations
1,592 Views
21 Pages

Reading and Writing Abilities in Students with Mild Nonspecific Intellectual Disability: A Multivariate Examination of Literacy and Cognitive Processing Abilities

  • Urszula Sajewicz-Radtke,
  • Ariadna Beata Łada-Maśko,
  • Paweł Jurek,
  • Michał Olech and
  • Bartosz Mikołaj Radtke

Individuals with mild nonspecific intellectual disability (NSID) often exhibit delayed literacy development. Unfortunately, how cognitive–linguistic processing profiles influence literacy in this population lacks clarity. This study investigate...

(This article belongs to the Special Issue Intelligence Testing and Its Role in Academic Achievement)
  • Perspective
  • Open Access
17 Citations
6,102 Views
12 Pages

27 December 2022

Children and adolescents with autism spectrum disorder (ASD) and/or Intellectual/Developmental Disability (IDD) are at greater risk of developing comorbid medical conditions, mental health diagnoses, behavioral challenges, and having overall poorer p...

(This article belongs to the Special Issue Frontiers in Developmental Behavioral Pediatrics in North America)
  • Article
  • Open Access
8 Citations
241 Views

Intellectual disability and psychiatric disorders: more than a dual diagnosis …

  • R. Lehotkay,
  • S. Varisco,
  • N. Deriaz,
  • A. Douibi and
  • Giuliana Galli Carminati

Background: Despite the difficulties associated with establishing a diagnosis of a mental illness in persons with intellectual disability, most authors agree to say that those persons are at high risk of developing comorbid serious mental illness but...

  • Review
  • Open Access
14 Citations
8,004 Views
15 Pages

Intellectual Functioning in Offspring of Parents with Bipolar Disorder: A Review of the Literature

  • Bonnie Klimes-Dougan,
  • Jake Jeong,
  • Kevin P. Kennedy and
  • Timothy A. Allen

28 October 2017

Impaired intellectual functioning is an important risk factor for the emergence of severe mental illness. Unlike many other forms of mental disorder however, the association between bipolar disorder and intellectual deficits is unclear. In this narra...

  • Article
  • Open Access
10 Citations
6,220 Views
10 Pages

With the introduction of the ICD-11 and DSM-5, indicators of adaptive behavior, including social–emotional skills, are in focus for a more comprehensive understanding of neurodevelopmental disorders. Emotional skills can be assessed with the Sc...

(This article belongs to the Special Issue Recent Advances in Psychopathology in Neurodevelopmental Disorders: From Bench to Bedside)
  • Review
  • Open Access
201 Views
55 Pages

2 October 2026

Immunoglobulin superfamily (IgSF) cell adhesion molecules (CAMs) are cell surface glycoproteins that play critical roles during multiple stages of synapse formation, including axon and dendrite growth and guidance, target recognition, axo-dendritic c...

(This article belongs to the Section Cellular Neuroscience)
  • Article
  • Open Access
14 Citations
6,734 Views
15 Pages

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

  • Alejandro Parra,
  • Rachel Rabin,
  • John Pappas,
  • Patricia Pascual,
  • Mario Cazalla,
  • Pedro Arias,
  • Natalia Gallego-Zazo,
  • Alfredo Santana,
  • Ignacio Arroyo and
  • Pablo Lapunzina
  • + 15 authors

29 May 2023

SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan–Lumish syndrome (LLS), intellectual developmental disord...

(This article belongs to the Special Issue Molecular Basis of Rare Diseases)
  • Review
  • Open Access
8 Citations
13,915 Views
22 Pages

Non-Syndromic Intellectual Disability and Its Pathways: A Long Noncoding RNA Perspective

  • Isabela I. Barros,
  • Vitor Leão,
  • Jessica O. Santis,
  • Reginaldo C. A. Rosa,
  • Danielle B. Brotto,
  • Camila B. Storti,
  • Ádamo D. D. Siena,
  • Greice A. Molfetta and
  • Wilson A. Silva

Non-syndromic intellectual disability (NS-ID or idiopathic) is a complex neurodevelopmental disorder that represents a global health issue. Although many efforts have been made to characterize it and distinguish it from syndromic intellectual disabil...

(This article belongs to the Section Long Non-Coding RNA)
  • Article
  • Open Access
5 Citations
2,654 Views
11 Pages

Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

  • Carla Lintas,
  • Angelo Facchiano,
  • Alessia Azzarà,
  • Ilaria Cassano,
  • Claudio Tabolacci,
  • Cinzia Galasso and
  • Fiorella Gurrieri

27 June 2023

Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectu...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Case Report
  • Open Access
3 Citations
2,904 Views
5 Pages

Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome

  • Irina Zh. Zhalsanova,
  • Ekatherina G. Ravzhaeva,
  • Anna E. Postrigan,
  • Gulnara N. Seitova,
  • Daria I. Zhigalina,
  • Vasilisa Yu. Udalova,
  • Maryana M. Danina,
  • Ilya V. Kanivets and
  • Nikolay A. Skryabin

13 September 2022

Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor developme...

(This article belongs to the Special Issue Molecular Genetics and Genomics in Human Hereditary Diseases in Russia)
  • Review
  • Open Access
7 Citations
9,603 Views
17 Pages

24 August 2024

Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by neurodevelopmental defects such as the congenital impairment of intellectual function and restricted adaptive behavior. However, genetic studies have been signif...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Case Report
  • Open Access
1 Citations
4,616 Views
5 Pages

5 December 2022

Two causes of intellectual disability are 15q13.3 deletion syndrome and BRWD3 X-linked intellectual disability. 15q13.3 deletion syndrome causes a heterogenous phenotype including intellectual disability (ID), developmental delay (DD), autism spectru...

  • Article
  • Open Access
5 Citations
2,367 Views
14 Pages

Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits

  • Antonino Musumeci,
  • Mirella Vinci,
  • Simone Treccarichi,
  • Donatella Greco,
  • Biagio Rizzo,
  • Angelo Gloria,
  • Concetta Federico,
  • Salvatore Saccone,
  • Sebastiano Antonino Musumeci and
  • Francesco Calì

CSMD1 is a gene involved in various biological processes and is highly expressed in the central nervous system, where it plays a key role in complement activity, brain circuit development, and cognitive function. It has been implicated as a susceptib...

(This article belongs to the Collection Feature Papers in Molecular Genetics and Genomics)
  • Article
  • Open Access
2 Citations
4,424 Views
21 Pages

Development of a Smart Ball to Evaluate Locomotor Performance: Application in Adolescents with Intellectual Disabilities

  • Wann-Yun Shieh,
  • Yan-Ying Ju,
  • Yu-Chun Yu,
  • Steven Pandelaki and
  • Hsin-Yi Kathy Cheng

22 September 2020

Adolescents with intellectual disabilities display maladaptive behaviors in activities of daily living because of physical abnormalities or neurological disorders. These adolescents typically exhibit poor locomotor performance and low cognitive abili...

(This article belongs to the Collection Sensors for Gait, Human Movement Analysis, and Health Monitoring)
  • Article
  • Open Access
1,400 Views
15 Pages

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant

  • Larissa Salustiano Evangelista Pimenta,
  • Claudia Berlim de Mello,
  • Guilherme V. Polanczyk,
  • Leslie Domenici Kulikowski,
  • Maria Isabel Melaragno and
  • Chong Ae Kim

24 January 2026

22q11.2 deletion syndrome (22q11.2DS) is the most common recurrent microdeletion in humans and a prototypical high-risk neurogenetic copy number variant (CNV) associated with a broad spectrum of neurodevelopmental and psychiatric disorders, including...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
7 Citations
5,721 Views
13 Pages

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

  • Maria Carla Borroto,
  • Coralie Michaud,
  • Chloé Hudon,
  • Pankaj B. Agrawal,
  • Katherine Agre,
  • Carolyn D. Applegate,
  • Alan H. Beggs,
  • Hans T. Bjornsson,
  • Bert Callewaert and
  • Philippe M. Campeau
  • + 28 authors

6 August 2024

Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, h...

(This article belongs to the Special Issue Molecular Genetics of Neurodevelopmental Disorders)
  • Article
  • Open Access
2 Citations
3,223 Views
14 Pages

Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome

  • Alessandra Ferrario,
  • Nijas Aliu,
  • Claudine Rieubland,
  • Sébastian Vuilleumier,
  • Hilary M. Grabe and
  • Pascal Escher

16 December 2023

Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient wit...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
9 Citations
7,030 Views
10 Pages

Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice

  • Sigita Lesinskiene,
  • Reda Montvilaite,
  • Kamile Pociute,
  • Ausra Matuleviciene and
  • Algirdas Utkus

11 April 2024

Background: Sotos syndrome is a genetic disorder caused by NSD1 gene (nuclear receptor binding SET domain containing protein 1) variants and characterized by overgrowth, macrocephaly, learning disabilities, and co-occurring neuropsychiatric symptoms....

(This article belongs to the Special Issue Clinical Updates on Psychology in Children and Adolescents)
  • Case Report
  • Open Access
1 Citations
7,663 Views
8 Pages

Could Cariprazine Be a Possible Choice for High Functioning Autism? A Case Report

  • Andrea Miuli,
  • Carlotta Marrangone,
  • Ornella Di Marco,
  • Arianna Pasino,
  • Gianfranco Stigliano,
  • Alessio Mosca,
  • Mauro Pettorruso,
  • Fabrizio Schifano and
  • Giovanni Martinotti

This case report was conducted by searching for the following keywords on PubMed: High Functioning Autism, Autism Spectrum Disorder, cariprazine, aripiprazole, partial agonist antipsychotic, DRD2/DRD3. High Functioning Autism (HFA) is a neurodevelopm...

  • Review
  • Open Access
12 Citations
11,594 Views
32 Pages

Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies

  • Alexandra D. Medyanik,
  • Polina E. Anisimova,
  • Angelina O. Kustova,
  • Victor S. Tarabykin and
  • Elena V. Kondakova

15 January 2025

Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their...

(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)
  • Article
  • Open Access
6 Citations
12,546 Views
10 Pages

Oppositional defiant disorder (ODD) is one of the most frequently diagnosed disorders in children with intellectual disabilities (ID). However, the high variability of results in prevalence studies suggests problems that should be investigated furthe...

(This article belongs to the Special Issue Intellectually and Developmentally Disabled Children and Adults: Assessment and Treatment)
  • Article
  • Open Access
1 Citations
3,120 Views
19 Pages

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review

  • Davide Politano,
  • Renato Borgatti,
  • Giulia Borgonovi,
  • Angelina Cistaro,
  • Cesare Danesino,
  • Piercarlo Fania,
  • Gaia Garghetti,
  • Andrea Guala,
  • Isabella Orlando and
  • Mara Giordano
  • + 7 authors

9 October 2025

Background: Autosomal dominant intellectual developmental disorder 51 (MIM #617788) is caused by pathogenic variants in KMT5B, a histone methyltransferase essential for transcriptional repression and central nervous system development. The disorder m...

(This article belongs to the Section Neurogenomics)
  • Article
  • Open Access
18 Citations
4,564 Views
12 Pages

Heterogeneity of Cognitive Profiles in Children and Adolescents with Mild Intellectual Disability (MID)

  • Urszula Sajewicz-Radtke,
  • Paweł Jurek,
  • Michał Olech,
  • Ariadna B. Łada-Maśko,
  • Anna M. Jankowska and
  • Bartosz M. Radtke

Mild Intellectual Disability (MID) is a neurodevelopmental disorder that begins in childhood and is characterized by limitations in intellectual functioning (IQ = 55–69) and adaptive behavior that manifests in everyday living. In addition to th...

(This article belongs to the Special Issue Trends and Challenges in Clinical Psychological Diagnosis in Children and Adolescents)
  • Article
  • Open Access
9 Citations
6,098 Views
10 Pages

This paper argues that the repetitive behaviour and restrictive interests (RBRI) displayed by individuals with Down syndrome have mostly positive functions. However, as research has developed from interests in Obsessional Compulsive Disorder or Autis...

  • Case Report
  • Open Access
2,023 Views
16 Pages

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders—New Case Report and a Comprehensive Review

  • Natasza Blek,
  • Mikołaj Pielas,
  • Volodymyr Kharytonov,
  • Karolina Rutkowska,
  • Joanna Rusecka,
  • Sławomir Lewicki,
  • Rafał Płoski and
  • Piotr Zwoliński

31 December 2025

Pathogenic variants in the PAK1 gene are linked to neurodevelopmental and neurodegenerative disorders by disrupting neuronal signaling and function. Despite increasing recognition, the mechanisms underlying these conditions remain incompletely unders...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
8 Citations
4,602 Views
14 Pages

11 September 2019

Background: The study of the biological basis of anxiety, depression, and intellectual disabilities in humans is one of the most actual problems of modern neurophysiology. Of particular interest is the study of complex interactions between molecular...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Review
  • Open Access
31 Citations
10,044 Views
14 Pages

Intellectual disability is a neurodevelopmental disorder with a related co-occurrence of mental health issues and challenging behaviors. In addition to purely cognitive functions, socio-emotional competencies may also be affected. In this paper, the...

(This article belongs to the Special Issue Recent Advances in Psychopathology in Neurodevelopmental Disorders: From Bench to Bedside)
  • Article
  • Open Access
1,830 Views
11 Pages

De Novo Heterozygous KDM3B Variants Expand the Mutational Spectrum of Diets-Jongmans Syndrome: Case Series and Literature Review

  • Haixia Miao,
  • Ting Zhang,
  • Shuai Chen,
  • Xiaocha Xu,
  • Kexin Fang,
  • Dingwen Wu,
  • Yi Zhang and
  • Xinwen Huang

28 February 2026

Background: Pathogenic variants in KDM3B have been implicated as the cause of Diets-Jongmans syndrome (DIJOS), an autosomal-dominant disorder characterized by growth retardation, intellectual disability, facial dysmorphism and autism-spectrum disorde...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
39 Citations
12,692 Views
17 Pages

7 April 2015

Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is...

(This article belongs to the Special Issue The Identification of the Genetic Components of Autism Spectrum Disorders)
  • Feature Paper
  • Review
  • Open Access
26 Citations
7,062 Views
12 Pages

Social Interaction Improved by Oxytocin in the Subclass of Autism with Comorbid Intellectual Disabilities

  • Haruhiro Higashida,
  • Toshio Munesue,
  • Hirotaka Kosaka,
  • Hidenori Yamasue,
  • Shigeru Yokoyama and
  • Mitsuru Kikuchi

22 February 2019

Approximately half of all autism spectrum disorder (ASD) individuals suffer from comorbid intellectual disabilities. Furthermore, the prevalence of epilepsy has been estimated to be 46% of patients with low intelligence quotient. It is important to i...

(This article belongs to the Section Neuro-psychiatric Disorders)
  • Article
  • Open Access
3,445 Views
14 Pages

Reasons for Encounters and Comorbidities in Adolescents with Intellectual Disability in General Practice: A Retrospective Analysis of Data from the Ask Study

  • Menghuan Song,
  • Tran T. A. Le,
  • Simon Denny,
  • Nicholas G. Lennox,
  • Lyn McPherson,
  • Robert S. Ware and
  • David Harley

25 August 2023

Adolescents with intellectual disability have substantial health needs. This retrospective analysis of data from the Ask Study describes reasons for primary care encounters and the prevalence and incidence of chronic physical and mental conditions am...

(This article belongs to the Section Pediatric Mental Health)
  • Article
  • Open Access
10 Citations
5,111 Views
12 Pages

Shorter P1m Response in Children with Autism Spectrum Disorder without Intellectual Disabilities

  • Yuko Yoshimura,
  • Takashi Ikeda,
  • Chiaki Hasegawa,
  • Kyung-Min An,
  • Sanae Tanaka,
  • Ken Yaoi,
  • Sumie Iwasaki,
  • Daisuke N. Saito,
  • Hirokazu Kumazaki and
  • Mitsuru Kikuchi
  • + 1 author

(1) Background: Atypical auditory perception has been reported in individuals with autism spectrum disorder (ASD). Altered auditory evoked brain responses are also associated with childhood ASD. They are likely to be associated with atypical brain ma...

(This article belongs to the Special Issue Pathogenesis and Treatment of Autism Spectrum Disorders)
  • Article
  • Open Access
15 Citations
5,361 Views
9 Pages

Disability-Specific Associations with Child Health and Functioning

  • Ko Ling Chan,
  • Camilla K. M. Lo,
  • Frederick K. Ho and
  • Patrick Ip

This study examined the health profile of children with different types of disabilities and explored the disability-specific associations with various types of health and functioning using a large nonclinical sample of children. A cross-sectional sch...

(This article belongs to the Special Issue Child Victimisation)
  • Study Protocol
  • Open Access

A constant number of female students consult the Psychological Counselling Centre for Students in Zurich regularly because of learning disorders and work inhibitions.These disorders are “localised” and appear in certain situations, but they can devel...

  • Protocol
  • Open Access
809 Views
11 Pages

Sleep in Autism Across the Lifespan: A Protocol for a Cross-Sectional Survey with Nationwide Dissemination in Spain

  • María Luisa Sánchez de Ocaña-Moreno,
  • Ana María García-Muñoz,
  • Isabel María Timón,
  • Guillermo Benito Ruiz,
  • Marta Plaza Sanz,
  • Ruth Vidriales Fernández,
  • Elena Martínez-Cayuelas,
  • Laura Gisbert-Gustemps,
  • Jorge Lugo-Marín and
  • Pura Ballester-Navarro
  • + 6 authors

Background: Autism spectrum disorder (ASD) is consistently associated with a high prevalence of sleep disturbances across the lifespan, with reported rates ranging from 60% to 86% depending on age and clinical characteristics. Although this issue has...

  • Case Report
  • Open Access
24 Citations
7,683 Views
9 Pages

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

  • Maria Anna Siano,
  • Ilaria De Maggio,
  • Roberta Petillo,
  • Dario Cocciadiferro,
  • Emanuele Agolini,
  • Massimo Majolo,
  • Antonio Novelli,
  • Matteo Della Monica and
  • Carmelo Piscopo

11 March 2022

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental...

  • Article
  • Open Access
6 Citations
3,822 Views
12 Pages

Prediction Model for Identifying Factors Associated with Epilepsy in Children with Cerebral Palsy

  • Carlo Mario Bertoncelli,
  • Nathalie Dehan,
  • Domenico Bertoncelli,
  • Sikha Bagui,
  • Subhash C. Bagui,
  • Stefania Costantini and
  • Federico Solla

8 December 2022

(1) Background: Cerebral palsy (CP) is associated with a higher incidence of epileptic seizures. This study uses a prediction model to identify the factors associated with epilepsy in children with CP. (2) Methods: This is a retrospective longitudina...

(This article belongs to the Section Pediatric Neurology & Neurodevelopmental Disorders)
  • Article
  • Open Access
16 Citations
4,628 Views
13 Pages

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

  • Sadegheh Haghshenas,
  • Michael A. Levy,
  • Jennifer Kerkhof,
  • Erfan Aref-Eshghi,
  • Haley McConkey,
  • Tugce Balci,
  • Victoria Mok Siu,
  • Cindy D. Skinner,
  • Roger E. Stevenson and
  • Charles Schwartz
  • + 1 author

23 January 2021

A growing number of genetic neurodevelopmental disorders are known to be associated with unique genomic DNA methylation patterns, called episignatures, which are detectable in peripheral blood. The intellectual developmental disorder, X-linked, syndr...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Review
  • Open Access
28 Citations
13,685 Views
23 Pages

Molecular Biomarkers in Fragile X Syndrome

  • Marwa Zafarullah and
  • Flora Tassone

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD). It is a trinucleotide repeat disorder, in which more than 200 CGG repeats in the 5’ untran...

(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)

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