intellectual disability and hearing impairment

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron...

INTRODUCTION: The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities...

OBJECTIVE: Individuals with autism spectrum disorder often present somatic and/or psychiatric co-morbid disorders. The DSM-5 allows for consideration of additional diagnoses besides ASD and may have impacted the prevalence of co-morbidities as well as being limited in capturing the true differences in prevalence observed between males and females. We describe the prevalence of ASD and frequently observed co-morbidities in children and adolescents (<18 years) in the United States and five European countries...

The study of the association of social variables with the prevalence of impairments can provide subsidies for more adequate care and health policies for the most needy people by incorporating social aspects. This article aims to estimate the prevalence of diverse types of impairments, the degree of difficulty, limitations, and the need for help they cause and attest whether this prevalence differ by educational attainment in individuals aged 20 years or older. This is a populational cross-sectional study (2015 Health Survey of São Paulo-ISA Capital)...

Background : Baraitser-Winter Syndrome (BRWS) is a rare autosomal dominant condition associated with hearing loss (HL). In the literature, two types of this condition are reported, Baraitser-Winter type 1 (BRWS1) and type 2 (BRWS2) produced by specific pathogenetic variants of two different genes, ACTB for BRWS1 and ACTG1 for BRWS2. In addition to syndromic BRWS2, some pathogenic variants in ACTG1 are associated also to another pathologic entity, the "Autosomal dominant non-syndromic hearing loss 20/26". In these syndromes, typical craniofacial features, sensory impairment (vision and hearing) and intellectual disabilities are frequently present...

Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+ -binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with CCDC47 deficiency have been reported, all of them with homozygous truncating CCDC47 variants. For this study, a Chinese family was recruited, which included a patient diagnosed with trichohepatoneurodevelopmental syndrome. Whole exome sequencing (WES) identified the proband's novel homozygous CCDC47 variation (NM_020198: c...

BACKGROUND: It is thought that physical health conditions start at a young age in people with profound intellectual and multiple disabilities (PIMD). Knowledge regarding the prevalence, associations and development of these physical health conditions could be used for purposes of prevention as well as appropriate care and support but is currently lacking. OBJECTIVE: The aim of this study is to gain insight into the prevalence of physical health conditions and associations between these conditions in young children with PIMD...

BACKGROUND: Despite more than 61 million people in the United States living with a disability, studies on the impact of disability on health care disparities in surgical patients remain limited. Therefore, we aimed to understand the impact of disability on postoperative outcomes. METHODS: We performed a retrospective cohort study using the Nationwide Readmission Database (2019). We compared patients ≥18 years undergoing emergency general surgery procedures with a disability condition with those without a disability...

BACKGROUND: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics...

BACKGROUND: It is estimated that 9.9% of children have developmental language disorders (DLD), 7.6% in the form of circumscribed DLD without any serious accompanying impairment and 2.3% with comorbidities that have a bearing on language, such as hearing disorders. Developmental language disorders are among the more commonly treated childhood disorders; if they persist, they often adversely affect educational attainment and social standing later in life. Developmental language delay during the third year of life is an important risk factor for developmental language disorders...

Few studies have focused on people with hearing loss and intellectual disabilities engaging in gambling activities. However, people with visual impairments' energetic participation in sports betting activities is unexplored. This article highlights sports betting strategies of visually impaired students to understand how their motives affect their gambling behaviours as an alternative to their survival. Six male adults aged between 27 and 40 years participated using semi-structured interviews, which were conducted face-to-face, recorded, transcribed, and thematically analysed with the Braun and Clarke model...

Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism...

Schizophrenia has a multifactorial etiology with a significant genetic component. Genome-wide association studies have identified common variants in candidate genes. However, the common variant can only account for a portion of the genetic variation underlying the disorder. Therefore, researchers suggest that rare variants may be one source of missing heritability in schizophrenia. We report the case of a 20-year-old male patient diagnosed with early-onset and ultra-treatment-resistant schizophrenia and mild intellectual disability and discuss certain rare genetic variants that may be involved in the etiology...

This clinical review is designed to assist the pediatrician, family physician or internist in caring for the child, adolescent, adult and family in whom a diagnosis of 16p11.2 deletion syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually within the first 5 years of life, occasionally an adolescent or adult will be tested and diagnosed after their sibling or child has been diagnosed with the same condition. Age specific guidance for the clinician is provided in Supplement Fig 1...

KEY CLINICAL MESSAGE: Adequate evaluation of patients with Hennekam Syndrome (HS) is challenging for physicians, because of multi-organ involvement and complex pathophysiology. We report the first case in an African American with lymphedema, who developed protein-losing enteropathy (PLE) and was successfully diagnosed with HS from cause-and-effect complications by Waldmann's Disease (WD) and comorbid Celiac Disease (CD). ABSTRACT: As far as we know, this is the 51st case of HS worldwide and the first one in an African American...

Background: More than 20% of the population in the United States suffers from a disability, yet the impact of disability on post-operative outcomes remains understudied. This analysis aims to characterize post-operative infectious complications in patients with disability. Patients and Methods: This was a retrospective review of the National Readmission Database (2019) among patients undergoing common general surgery procedures. As per the U.S. Centers for Disease Control and Prevention (CDC), disability was defined as severe hearing, visual, intellectual, or motor impairment/caregiver dependency...

This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional disabilities. The most recent literature concerning cochlear implants (CIs) in DHH children with additional disabilities was systematically explored through PubMed, Embase, Scopus, PsycINFO, and Web of Science from January 2012 to July 2023. Our two-stage search strategy selected a total of 61 articles concerning CI implantation in children with several forms of additional disabilities: autism spectrum disorder, cerebral palsy, visual impairment, motor disorders, developmental delay, genetic syndromes, and intellectual disability...

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness. Homozygosity mapping, integrated single nucleotide polymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141 (c...

Down syndrome (DS) or trisomy 21 is the most common genetic cause of intellectual disability (ID), but a pathogenic mechanism has not been identified yet. Studying a complex and not monogenic condition such as DS, a clear correlation between cause and effect might be difficult to find through classical analysis methods, thus different approaches need to be used. The increased availability of big data has made the use of artificial intelligence (AI) and in particular machine learning (ML) in the medical field possible...

BACKGROUND: Child disability has significant implications on their well-being and healthcare systems. AIM: This survey aimed to assess the magnitude of seven types of disability among Egyptian children aged 1 < 6 years and their socio-demographic, epidemiological, and perinatal predictors. METHODS: A national population-based cross-sectional household survey targeting 21,316 children from eight governorates was conducted. The screening questionnaire was derived from the WHO ten-question survey tool validated for identifying seven disability categories...