114,095 results match your criteria Mental Retardation


Impact of diagnosis and therapy on cognitive function in urea cycle disorders.

Ann Neurol 2019 Apr 24. Epub 2019 Apr 24.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.

Objective: Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.

Methods: This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.25492
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http://dx.doi.org/10.1002/ana.25492DOI Listing
April 2019
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Using Artificial Intelligence to Identify Factors Associated with Autism Spectrum Disorder in Adolescents with Cerebral Palsy.

Neuropediatrics 2019 Apr 24. Epub 2019 Apr 24.

Department of Pediatric Orthopaedic Surgery, Lenval University Pediatric Hospital of Nice, Nice, France.

Autism spectrum disorder (ASD) is common in adolescents with cerebral palsy (CP) and there is a lack of studies applying artificial intelligence to investigate this field and this population in particular. The aim of this study is to develop and test a predictive learning model to identify factors associated with ASD in adolescents with CP. This was a multicenter controlled cohort study of 102 adolescents with CP (61 males, 41 females; mean age ± SD [standard deviation] = 16. Read More

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http://dx.doi.org/10.1055/s-0039-1685525DOI Listing

From thinking to acting: occupational self-analysis tools for use with people with intellectual disability. A pilot study.

J Intellect Disabil Res 2019 Apr 24. Epub 2019 Apr 24.

Department of Physiotherapy (Occupational Therapy), University of Malaga; Mind, Brain and Behavior Research Center, University of Granada, Granada, Spain.

Background: Occupational self-analysis programmes have been developed to promote health, mainly in older adults. However, we have found no published studies dealing with this in people with intellectual disability (ID). The aim of this study was to examine the effectiveness of an occupational self-analysis programme in people with ID, focusing on the areas of subjective health perception and participation. Read More

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http://dx.doi.org/10.1111/jir.12621DOI Listing

Analysis of a nanoparticle‑enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis.

Int J Mol Med 2019 Jun 9;43(6):2303-2318. Epub 2019 Apr 9.

Department of Molecular and Translational Medicine, University of Brescia, I‑25123 Brescia, Italy.

Down syndrome (DS) is caused by the presence of part or all of a third copy of chromosome 21. DS is associated with several phenotypes, including intellectual disability, congenital heart disease, childhood leukemia and immune defects. Specific microRNAs (miRNAs/miR) have been described to be associated with DS, although none of them so far have been unequivocally linked to the pathology. Read More

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http://www.spandidos-publications.com/10.3892/ijmm.2019.4158
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http://dx.doi.org/10.3892/ijmm.2019.4158DOI Listing
June 2019
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'Transformed rights' sexual health programme evaluation for the parents and service workers of adults with an intellectual disability.

J Intellect Disabil Res 2019 Apr 23. Epub 2019 Apr 23.

Teacher Education and Career Development Center, University of Taipei, Taipei, Taiwan.

Background: To promote sexual health in adults with an intellectual disability (ID) in Taiwan, sexual health programmes were provided to adults with ID, their parents and service workers. This study evaluates the impact of these programmes that involved the parents and service workers.

Methods: Intervention and participatory research paradigms were applied to develop, implement and evaluate programmes that address the challenges that relate to the sexual rights of adults with ID. Read More

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http://dx.doi.org/10.1111/jir.12624DOI Listing

A novel compound heterozygous variant of identified in a Japanese patient with Leigh syndrome.

Hum Genome Var 2019 19;6:19. Epub 2019 Apr 19.

1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in , which encodes a short-chain enoyl-CoA hydratase involved in the metabolism of fatty acids and branched-chain amino acids in mitochondria. Using exome sequencing, we diagnosed a Japanese patient with LS and identified the patient as a compound heterozygote for a novel variant of , consisting of NM_004092. Read More

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http://dx.doi.org/10.1038/s41439-019-0050-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474858PMC

The case for removing intellectual disability and autism from the Mental Health Act.

Br J Psychiatry 2019 Apr 24:1-3. Epub 2019 Apr 24.

RCPsych Parliamentary Scholar and Specialty Trainee in Psychiatry,South West London and St George's Mental Health NHS Trust,UK.

SummaryIntellectual disability (also known as learning disability in UK health services) and autism are distinct from the serious mental illnesses for which the Mental Health Act is designed to be used. Their inclusion in the definition of mental disorder is discriminatory, resulting in unjust deprivations of liberty. Intellectual disability and autism should be excluded from the Mental Health Act. Read More

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http://dx.doi.org/10.1192/bjp.2019.26DOI Listing

Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience

Turk J Med Sci 2019 Apr 24;49(3). Epub 2019 Apr 24.

Background/aim: Most inborn metabolic diseases are diagnosed during the neonatal period. The accumulation of toxic metabolites may cause acute metabolic crisis with long-term neurological dysfunction and death. Renal replacement therapy (RRT) modalities allow the efficient removal of toxic metabolites. Read More

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http://dx.doi.org/10.3906/sag-1811-8DOI Listing

Perinatal Exposure to Environmental Endocrine Disruptors in the Emergence of Neurodevelopmental Psychiatric Diseases: A Systematic Review.

Int J Environ Res Public Health 2019 Apr 12;16(8). Epub 2019 Apr 12.

Institut National de la Santé Et de la Recherche Médicale (INSERM), Physiopathologie des Maladies Psychiatriques, Inserm 1266 Institut de Psychiatrie et Neurosciences de Paris (IPNP), 75014 Paris, France.

Exposure to endocrine disruptors is on the rise, with new compounds regularly incriminated. In animals and humans, this exposure during critical developmental windows has been associated with various developmental abnormalities, including the emergence of psychiatric disorders. We aimed to review the association between perinatal endocrine disruptor exposure and neurodevelopmental disorders in humans, focusing on cognitive and psychiatric disorders. Read More

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http://dx.doi.org/10.3390/ijerph16081318DOI Listing

Domains of planning for future long-term care of adults with intellectual and developmental disabilities: Parent and sibling perspectives.

J Appl Res Intellect Disabil 2019 Apr 22. Epub 2019 Apr 22.

Division of General Pediatrics, Steven & Alexandra Cohen Children's Medical Center of Northwell Health, New Hyde Park, New York.

Background: Research shows that adults with intellectual and developmental disabilities (IDD) increasingly outlive caregivers, who often struggle to plan for the future and have little support and knowledge surrounding long-term care planning.

Methods: The study team conducted interviews with parents and siblings of adults with IDD and performed qualitative coding using a modified grounded theory to explore domains of future planning and identify barriers and facilitators.

Results: Themes from the interviews revealed seven major domains of future planning that should be considered by caregivers of adults with IDD. Read More

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http://dx.doi.org/10.1111/jar.12600DOI Listing

The effect of local aspiration and methotrexate injection on live interstitial pregnancy coexisting with live intrauterine pregnancy after assisted reproductive technology.

J Obstet Gynaecol Res 2019 Apr 22. Epub 2019 Apr 22.

Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Zhejiang, China.

Aim: To share the experience of local aspiration and instillation of methotrexate (MTX) to selective reduction of live interstitial pregnancy and to evaluate its clinical effect and the outcome of intrauterine pregnancy.

Methods: Twelve patients with heterotopic interstitial pregnancy were enrolled at Women's Hospital, Zhejiang University School of Medicine, from 2006 to 2017. All the pregnancies were derived from assisted reproductive technology (ART). Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/jog.13975
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http://dx.doi.org/10.1111/jog.13975DOI Listing
April 2019
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Risk factors associated with epilepsy development in children with cerebral palsy.

Childs Nerv Syst 2019 Apr 22. Epub 2019 Apr 22.

Cerrahpasa Faculty of Medicine, Department of Pediatric Neurology, Istanbul University, Istanbul, Turkey.

Objectives: Epilepsy is one of the most common and important comorbidity among patients with cerebral palsy (CP). The purpose of this study was to determine the risk factors predicting the development of epilepsy considering prenatal, perinatal, and natal characteristics; associated impairments; and cranial imaging findings in our patient population with cerebral palsy at a tertiary center in Istanbul, Turkey.

Methods: This retrospective study consisted of 234 children aged between 3 and 18 years of age. Read More

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http://link.springer.com/10.1007/s00381-019-04152-w
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http://dx.doi.org/10.1007/s00381-019-04152-wDOI Listing
April 2019
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DYKE-DAVIDOFF-MASSON SYNDROME-A Rare Cause of Cerebral Hemiatrophy in a 17-Years-Old Ethiopian Patient: A Case Report.

Ethiop J Health Sci 2019 Mar;29(2):287-290

Department of Neurology, School of Medicine, College of Health Sciences, Addis Ababa University.

Background: Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease with unknown frequency, mainly presented with seizures, facial asymmetry, contralateral hemiparesis and mental retardation. Often, resulting from brain injury due to a multitude of causes, especially in early life, associated with birth asphyxia. Radiological findings include cerebral hemiatrophy/hypoplasia, calvarial thickening, and hyperpneumatization of the frontal sinuses. Read More

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http://dx.doi.org/10.4314/ejhs.v29i2.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460453PMC

Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays.

Cold Spring Harb Mol Case Stud 2019 Apr 22. Epub 2019 Apr 22.

Columbia University;

Two siblings, one male and one female, ages 6 and 13 years old have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole genome sequencing revealed a homozygous splice variant (NM_014462.3:c. Read More

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http://dx.doi.org/10.1101/mcs.a004101DOI Listing

Information infrastructure and quality person-centred support in supported accommodation: An integrative review.

Patient Educ Couns 2019 Mar 22. Epub 2019 Mar 22.

Graduate School of Health, University of Technology, Sydney, Australia. Electronic address:

Objectives: To integrate findings on the information infrastructure for people with intellectual or developmental disability (I/DD) living in supported accommodation, to understand how documentation use impacts person-centred support.

Methods: We conducted an integrative literature review. Following screening by two independent reviewers, we included English language peer-reviewed empirical studies (n = 34) on documentation use for people with I/DD in domestic-scale supported accommodation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07383991183077
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http://dx.doi.org/10.1016/j.pec.2019.03.008DOI Listing
March 2019
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Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

J Med Case Rep 2019 Apr 23;13(1):100. Epub 2019 Apr 23.

System Medicine Department, Child Neurology and Psychiatry Unit, University of Rome Tor Vergata, Rome, Italy.

Background: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. Little is known about the neuropsychological phenotype and the developmental features of this syndrome.

Case Presentation: We describe the clinical features of a 7-year-old Italian white boy affected by Greig cephalopolysyndactyly syndrome in comorbidity with autism spectrum disorder and the case of his 45-year-old white father, carrying the same point deletion (c. Read More

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http://dx.doi.org/10.1186/s13256-019-2043-6DOI Listing

Whole genome bisulfite sequencing of Down syndrome brain reveals regional DNA hypermethylation and novel disorder insights.

Epigenetics 2019 Apr 22. Epub 2019 Apr 22.

a Department of Medical Microbiology and Immunology , School of Medicine, Genome Center, MIND Institute, University of California , Davis , CA 95616 , USA.

Down Syndrome (DS) is the most common genetic cause of intellectual disability, in which an extra copy of human chromosome 21 (HSA21) affects regional DNA methylation profiles across the genome. Although DNA methylation has been previously examined at select regulatory regions across the genome in a variety of DS tissues and cells, differentially methylated regions (DMRs) have yet to be examined in an unbiased sequencing-based approach. Here, we present the first analysis of DMRs from whole genome bisulfite sequencing (WGBS) data of human DS and matched control brain, specifically frontal cortex. Read More

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https://www.tandfonline.com/doi/full/10.1080/15592294.2019.1
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http://dx.doi.org/10.1080/15592294.2019.1609867DOI Listing
April 2019
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The Effect of Disability on the Diagnosis and Treatment of Multiple Myeloma in Korea: A National Cohort Study.

Cancer Res Treat 2019 Apr 22. Epub 2019 Apr 22.

3Graduate School of Health Science Business Convergence, Chungbuk National University College of Medicine, Cheongju, Korea.

Purpose: This study aimed to determine whether the diagnosis, treatment approach and prognosis of multiple myeloma (MM) vary according to the presence and type of disability.

Materials And Methods: Demographic, socioeconomic, and medical data were obtained from the National Disability Database, the Korean Central Cancer Registry, and the Korean National Health Insurance claims database. An age- and sex-matched cohort was established using a 1:3 ratio constituted with 2,776,450 people with disabilities and 8,329,350 people without disabilities. Read More

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http://dx.doi.org/10.4143/crt.2018.702DOI Listing

Parent perspectives on perceived dental pain and dental caries in Saudi schoolchildren with intellectual disability.

Spec Care Dentist 2019 Apr 22. Epub 2019 Apr 22.

Dental Public Health, Dental Health Department, Faculty of Applied Medical Sciences, Albaha University, Albaha, Saudi Arabia.

Aims: To assess dental pain among male Saudi schoolchildren with intellectual learning disabilities (ILD) compared with controls and evaluate parents' perceptions of their children's dental pain and dental status.

Methods And Results: A mixed-method cross-sectional study of 92 male schoolchildren aged 12-16 years was conducted at schools in Albaha, Saudi Arabia between March and May 2018. Participants were clinically examined for dental caries. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/scd.12379
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http://dx.doi.org/10.1111/scd.12379DOI Listing
April 2019
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Psychopathological disorders in Prader-Willi syndrome.

Endocrinol Diabetes Nutr 2019 Apr 18. Epub 2019 Apr 18.

Servicio de Endocrinología y Nutrición, Hospital Universitari Parc Taulí, Universidad Autónoma de Barcelona, Sabadell (Barcelona), España. Electronic address:

Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, and behavioral symptoms, as well as a specific physical phenotype. Both the most common psychopathological changes (intellectual disability, obsessions, impulsivity, autism spectrum disorders, self-injuries) and the main psychiatric comorbidities (affective disorders, psychosis, obsessive-compulsive disorder, autism spectrum disorder) are characterized by a great heterogeneity, which warrants the need for better identification of their frequency and clinical signs. In addition to its effects on body compositionand hypotony, growth hormone has been shown to be useful for regulating patient behavior, and psychoactive drugs are also an option. Read More

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http://dx.doi.org/10.1016/j.endinu.2019.03.004DOI Listing

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

Am J Hum Genet 2019 Apr 11. Epub 2019 Apr 11.

Genome Damage and Stability Centre, University of Sussex, BN1 9RQ Sussex, UK. Electronic address:

Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achieves this task are three members of the B family of DNA polymerases: DNA polymerases α, δ, and ε. Collectively these multimeric polymerases ensure DNA replication proceeds at optimal rates approaching 2 × 10 nucleotides/min with an error rate of less than one per million nucleotides polymerized. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.03.006DOI Listing

Late avulsion of a free flap in a patient with severe psychiatric illness: Establishing a successful salvage strategy.

Arch Plast Surg 2019 Apr 20. Epub 2019 Apr 20.

Department of Plastic, Reconstructive and Hand Surgery, University Hospital of Lausanne (CHUV), Lausanne, Switzerland.

Post-traumatic defects of the distal third of the leg often require skipping a few steps of the well-established reconstructive ladder, due to the limited local reliable reconstructive options. In rare cases, the reconstructive plan and flap choice may encounter challenges when the patient has psychiatric illness affecting compliance with postoperative care. We describe a case of a patient with severe intellectual disability and an open fracture of the distal lower limb. Read More

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http://www.e-aps.org/journal/view.php?doi=10.5999/aps.2018.0
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http://dx.doi.org/10.5999/aps.2018.01039DOI Listing
April 2019
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Age-Dependency of Levetiracetam Effects on Exocytotic GABA Release from Nerve Terminals in the Hippocampus and Cortex in Norm and After Perinatal Hypoxia.

Cell Mol Neurobiol 2019 Apr 20. Epub 2019 Apr 20.

The Department of Neurochemistry, Palladin Institute of Biochemistry, National Academy of Sciences of Ukraine, 9 Leontovicha Str, Kiev, 01030, Ukraine.

Perinatal hypoxia can lead to multiple chronic neurological deficits, e.g., mental retardation, behavioral abnormalities, and epilepsy. Read More

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http://dx.doi.org/10.1007/s10571-019-00676-6DOI Listing
April 2019
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Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Pediatr Neurol 2019 Mar 13. Epub 2019 Mar 13.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Background: Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. TSC2 pathogenic variants appear to increase the risk, compared with TSC1. However, the effect of TSC2 pathogenic variants on early and specific domains of development hasn't been studied. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.003DOI Listing

The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

Int Orthod 2019 Apr 17. Epub 2019 Apr 17.

University Lille 2, Roger-Salengro hospital, department of maxillofacial surgery, 59000 Lille, France; Controlled Drug Delivery Systems and Biomaterials, Inserm U 1008, 59000 Lille, France.

Objective: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder. It is due to a deficiency of 7-dehydrocholesterol reductase (DHCR7) that catalyses the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. The aim of this review is to gather all information, concerning diagnostic characteristics of this syndrome, with an emphasis on intraoral symptom presentation. Read More

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http://dx.doi.org/10.1016/j.ortho.2019.03.020DOI Listing

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Kidney Int 2019 Mar 15. Epub 2019 Mar 15.

Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, Alabama, USA. Electronic address:

Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yields. We recently described a novel intellectual disability syndrome caused by de novo heterozygous loss-of-function mutations in the gene encoding the splicing factor SON. Read More

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http://dx.doi.org/10.1016/j.kint.2019.01.025DOI Listing

Subtle differences in synaptic transmission in medial nucleus of trapezoid body neurons between wild-type and Fmr1 knockout mice.

Authors:
Yong Lu

Brain Res 2019 Apr 17. Epub 2019 Apr 17.

Department of Anatomy and Neurobiology, College of Medicine, Northeast Ohio Medical University, Rootstown, OH 44272, USA. Electronic address:

In animal models for fragile X syndrome where the gene for fragile X mental retardation protein is knocked out (Fmr1 KO), neurotransmission in multiple brain regions shifts excitation/inhibition balance, resulting in hyperexcitability in neural circuits. Here, using whole-cell recordings from brainstem slices, we investigated synaptic transmission at the medial nucleus of trapezoid body (MNTB, a critical nucleus in the brainstem sound localization circuit), in Fmr1 KO and wild-type (WT) mice 2-3 weeks of age in both sexes. Surprisingly, neither synaptic excitation nor inhibition in KO neurons was significantly changed. Read More

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http://dx.doi.org/10.1016/j.brainres.2019.04.006DOI Listing

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

J Hum Genet 2019 Apr 19. Epub 2019 Apr 19.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Read More

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http://dx.doi.org/10.1038/s10038-019-0600-xDOI Listing

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom.

Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASD) and overgrowth and CHD8 is one of the causative genes for OGID (overgrowth and ID). We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62. Read More

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019
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Substance Use Disorder in People with Intellectual Disabilities: Current Challenges in Low- and Middle-Income Countries.

J Neurosci Rural Pract 2019 Apr-Jun;10(2):301-305

Behavioral and Environment Health, Jackson State University, Jackson, Mississippi, USA.

Use of illegal and prescription drugs has significantly increased in recent years all over the world in most populations. Greater worldwide awareness in this regard has substantially improved the epidemiological understanding of substance use, its risk factors, and impact on life. People with intellectual disabilities constitute 0. Read More

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http://www.ruralneuropractice.com/text.asp?2019/10/2/301/254
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http://dx.doi.org/10.4103/jnrp.jnrp_393_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454939PMC
April 2019
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Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan.

J Pak Med Assoc 2019 Apr;69(4):509-513

Department of Paediatrics and Child Health, Aga Khan University, Karachi.

Objective: To assess the clinical and biochemical features as well as outcome of hyperphenylalaninemia patients.

Methods: The descriptive retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from January 2013 to February 2017 of plasma amino acid analysed at the Biochemical Genetic Laboratory of patients with phenylalanine levels >120 umol/L. Medical charts of patients registered with the Metabolic Clinics were reviewed, while outside referrals were contacted by telephone to collect data on a pre-structured questionnaire. Read More

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April 2019
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Enhanced dendritic inhibition and impaired NMDAR activation in a mouse model of Down syndrome.

J Neurosci 2019 Apr 18. Epub 2019 Apr 18.

Department of Biomedicine, University of Basel, Pestalozzistr. 20, CH-4056 Basel, Switzerland

Down syndrome (DS) or Trisomy 21 is a developmental disorder leading to cognitive deficits including disruption of hippocampus-dependent learning and memory. Enhanced inhibition has been suggested to underlie these deficits in DS based on studies using the Ts65Dn mouse model. Here we show that in this mouse model, GABAergic synaptic inhibition onto dendrites of hippocampal pyramidal cells is increased. Read More

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.2723-1
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http://dx.doi.org/10.1523/JNEUROSCI.2723-18.2019DOI Listing
April 2019
5 Reads

Poor Social Network, Not Living Alone, Is Associated With Incidence of Adverse Health Outcomes in Older Adults.

J Am Med Dir Assoc 2019 Apr 9. Epub 2019 Apr 9.

Research Team for Social Participation and Community Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan.

Objective: Although it has been suggested that living alone is a "social risk factor" for adverse health outcomes, poor social network may confound the association. This study aimed to examine whether the interactive effects of living alone and poor social network contribute to adverse health outcomes.

Design: A 4-year prospective observational study. Read More

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http://dx.doi.org/10.1016/j.jamda.2019.02.021DOI Listing

Whole-exome sequencing reveals novel variant in female fetus with isolated agenesis of the corpus callosum.

Clin Case Rep 2019 Apr 19;7(4):656-660. Epub 2019 Feb 19.

Division of Genetics, Department of Pediatrics University of California San Diego California.

Whole-exome sequencing in a female fetus detected a variant. This X-linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with . Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2051
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http://dx.doi.org/10.1002/ccr3.2051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501PMC
April 2019
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QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.

PLoS One 2019 17;14(4):e0215162. Epub 2019 Apr 17.

University Children's Hospital, Division of Child Neurology and Metabolic Diseases, Heidelberg, Germany.

Dihydropteridine reductase (QDPR) catalyzes the recycling of tetrahydrobiopterin (BH4), a cofactor in dopamine, serotonin, and phenylalanine metabolism. QDPR-deficient patients develop neurological symptoms including hypokinesia, truncal hypotonia, intellectual disability and seizures. The underlying pathomechanisms are poorly understood. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215162PLOS
April 2019
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Association of Rare Copy Number Variants With Risk of Depression.

JAMA Psychiatry 2019 Apr 17. Epub 2019 Apr 17.

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, United Kingdom.

Importance: The role of large, rare copy number variants (CNVs) in neuropsychiatric disorders is well established, but their association with common psychiatric disorders, such as depression, remains unclear.

Objective: To examine the association of a group of 53 CNVs associated with neurodevelopmental disorders and burden of rare CNVs with risk of depression.

Design, Setting, And Participants: This case-control study used data from the UK Biobank study sample, which comprised 502 534 individuals living in the United Kingdom. Read More

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http://archpsyc.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapsychiatry.2019.0566DOI Listing
April 2019
3 Reads

Scoping review: Interventions that promote functional performance for adolescents and adults with Intellectual and Developmental Disabilities.

Aust Occup Ther J 2019 Apr 16. Epub 2019 Apr 16.

School of Health and Natural Sciences, Mercy College, Dobbs Ferry, New York, USA.

Introduction: Individuals with Intellectual and Developmental Disabilities (IDD) experience broad impairments that affect their functional performance and consequently result in the need for supervision and assistance on a daily basis. The literature contains effectiveness studies of functional interventions provided to adolescents and adults with IDD. However, existing differences in participant characteristics, study design, and type of functional intervention limit the ability to derive clinical evidence-based decisions. Read More

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http://dx.doi.org/10.1111/1440-1630.12577DOI Listing

Quality and quantity control of gene expression by nonsense-mediated mRNA decay.

Nat Rev Mol Cell Biol 2019 Apr 16. Epub 2019 Apr 16.

Department of Biochemistry and Biophysics, School of Medicine and Dentistry, University of Rochester, Rochester, NY, USA.

Nonsense-mediated mRNA decay (NMD) is one of the best characterized and most evolutionarily conserved cellular quality control mechanisms. Although NMD was first found to target one-third of mutated, disease-causing mRNAs, it is now known to also target ~10% of unmutated mammalian mRNAs to facilitate appropriate cellular responses - adaptation, differentiation or death - to environmental changes. Mutations in NMD genes in humans are associated with intellectual disability and cancer. Read More

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http://www.nature.com/articles/s41580-019-0126-2
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http://dx.doi.org/10.1038/s41580-019-0126-2DOI Listing
April 2019
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Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation.

J Neurosci 2019 Apr 16. Epub 2019 Apr 16.

Institute of Basic Medical Sciences

Coiled-coil and C2 domain containing 1A (CC2D1A) is an evolutionarily conserved protein, originally identified as a nuclear factor-κB activator through a large-scale screen of human genes. Mutations in the human gene result in autosomal recessive nonsyndromic intellectual disability. It remains unclear, however, how mutation leads to alterations in brain function. Read More

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http://dx.doi.org/10.1523/JNEUROSCI.2395-18.2019DOI Listing

Quantitative examination of the bone health status of older adults with intellectual and developmental disability in Ireland: a cross-sectional nationwide study.

BMJ Open 2019 Apr 15;9(4):e026939. Epub 2019 Apr 15.

Dean of the Faculty of Health Sciences, Trinity College Dublin, The University of Dublin, Dublin, Ireland.

Objectives: (1) To investigate the prevalence of osteopenia and osteoporosis among adults with intellectual disabilities (IDs) and (2) to examine alternative optimal bone screening techniques.

Design: Observational cross-sectional study.

Setting: Wave 2 (2013-2106) of the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-026939DOI Listing

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Neurocase 2019 Apr 16:1-4. Epub 2019 Apr 16.

c Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre , "Federico II" University of Naples , Naples , Italy.

Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . Read More

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http://dx.doi.org/10.1080/13554794.2019.1602144DOI Listing
April 2019
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Flexible assertive community treatment for individuals with a mild intellectual disability or borderline intellectual functioning: results of a longitudinal study in the Netherlands.

J Intellect Disabil Res 2019 Apr 16. Epub 2019 Apr 16.

Behavioural Science Institute (BSI), Radboud University, Nijmegen, the Netherlands & Trajectum, Zwolle, the Netherlands.

Background: Assertive community treatment (ACT) and Flexible assertive community treatment (FACT) are organisation models for intensive assertive outreach that were originally developed for individuals with severe mental illness. The models are increasingly applied to people with mild intellectual disability (MID) or borderline intellectual functioning (BIF) and challenging behaviour or mental illness. Research on these types of care for this population is limited. Read More

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http://dx.doi.org/10.1111/jir.12619DOI Listing
April 2019
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Characterization of oral health in a Portuguese population with mild intellectual disability.

Spec Care Dentist 2019 Apr 16. Epub 2019 Apr 16.

Department of Oral and Maxillofacial Medicine and Diagnostic Sciences, School of Dental Medicine, Case Western Reserve University, Cleveland, Ohio.

Aims: This study aims to characterize the hygiene habits, the self-perception of the need for treatment and the oral condition of a population with a disability.

Methods And Results: This research is part of an observational, cross-sectional epidemiological study on oral health and quality of life of people with mild intellectual disabilities living in (or attending) institutions of the Central Region of Portugal that were affiliated with HUMANITAS (Portuguese Federation for Mental Disability) in 2016. A sociodemographic and oral health questionnaire, applied on the form of an interview to 240 individuals aged between 18 and 64 years, was used. Read More

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http://dx.doi.org/10.1111/scd.12376DOI Listing
April 2019
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Crime and victimization among people with intellectual disability with and without comorbid mental illness.

J Appl Res Intellect Disabil 2019 Apr 16. Epub 2019 Apr 16.

Centre for Forensic Behavioural Science, Swinburne University of Technology, Melbourne, Victoria, Australia.

Background: Accumulating evidence internationally points to an increased risk of crime perpetration and victimization among people with an intellectual disability (ID). This study aimed to examine the impact that comorbid mental illness had on the association between intellectual disability, crime perpetration and criminal victimization.

Method: A case linkage methodology involving 2,220 individuals with an intellectual disability from an Australian State. Read More

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http://dx.doi.org/10.1111/jar.12598DOI Listing
April 2019
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Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Mol Neurobiol 2019 Apr 13. Epub 2019 Apr 13.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Box 815, SE-751 08, Uppsala, Sweden.

Down syndrome (DS) or trisomy 21 (T21) is a leading genetic cause of intellectual disability. To gain insights into dynamics of molecular perturbations during neurogenesis in DS, we established a model using induced pluripotent stem cells (iPSC) with transcriptome profiles comparable to that of normal fetal brain development. When applied on iPSCs with T21, transcriptome and proteome signatures at two stages of differentiation revealed strong temporal dynamics of dysregulated genes, proteins and pathways belonging to 11 major functional clusters. Read More

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http://dx.doi.org/10.1007/s12035-019-1585-3DOI Listing
April 2019
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Correlation Between and Malocclusion in Rett Syndrome: A preliminary study.

Sultan Qaboos Univ Med J 2018 Nov 28;18(4):e489-e493. Epub 2019 Mar 28.

Department of Ear, Nose & Throat, University Hospital of Siena, Siena, Italy.

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and in patients with RS.

Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. Read More

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https://journals.squ.edu.om/index.php/squmj/article/view/299
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http://dx.doi.org/10.18295/squmj.2018.18.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443277PMC
November 2018
4 Reads