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Genomics 2020 Jul 6. Epub 2020 Jul 6.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Electronic address:

The membrane bound O-acyltransferase domain-containing 7 (MBOAT7) gene codes for an enzyme involved in regulating arachidonic acid incorporation in lysophosphatidylinositol. Patients with homozygous nonsense mutations in MBOAT7 have intellectual disability (ID) accompanied with seizure and autism. Accumulating evidences obtained from human genetic studies have shown that MBOAT7 is also involved in fatty liver disease. Read More

Epilepsia 2020 Jul 9. Epub 2020 Jul 9.

Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.

Fibroblast growth-factor homologous factor (FHF1) gene variants have recently been associated with developmental and epileptic encephalopathy (DEE). FHF1 encodes a cytosolic protein that modulates neuronal sodium channel gating. We aim to refine the electroclinical phenotypic spectrum of patients with pathogenic FHF1 variants. Read More

J Intellect Disabil Res 2020 Jul 9. Epub 2020 Jul 9.

Department of Special Education, University of Fribourg, Fribourg, Switzerland.

Background: Nearly two-thirds of pregnancies in women with Down syndrome (DS) end in abortion. The aim of the present study was to determine if these high abortion rates might relate to specific characteristics of women with DS, their life situation and the course of pregnancy.

Methods: In a sample of 351 pregnancies in Switzerland (1998 to 2009), women with DS were compared with women with other forms of intellectual disability (ID) and women without ID, regarding the type of abortion, personal characteristics and pregnancy complications that might increase the probability of abortion. Read More

Psychol Med 2020 Jul 9:1-13. Epub 2020 Jul 9.

Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.

Background: A number of genomic conditions caused by copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (ND-CNVs). Although these patients also tend to have cognitive impairments, few studies have investigated the range of emotion and behaviour problems in young people with ND-CNVs using measures that are suitable for those with learning difficulties.

Methods: A total of 322 young people with 13 ND-CNVs across eight loci (mean age: 9. Read More

J Autism Dev Disord 2020 Jul 8. Epub 2020 Jul 8.

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe-University, Goethe-Universität, Deutschordenstr. 50, 60528, Frankfurt, Germany.

Restricted repetitive behaviors (RRBs) are a core feature of autism spectrum disorders (ASD) and further occur in intellectual disability (ID), mental disorders (MD), and in typically developed people (TD). There is a need of a valid and reliable measure to record RRBs as transdiagnostic symptom, which captures RRBs heterogeneity and evaluates severity. The Repetitive Behavior Scale-Revised (RBS-R) is an established screening instrument for RRBs, but was predominantly limited to ASD samples. Read More

J Autism Dev Disord 2020 Jul 8. Epub 2020 Jul 8.

Department of Biostatistics, Robert Stempel College of Public Health and Social Work, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.

This study evaluated the measurable impact of the use of virtual interactive training agents (ViTA) as a way to practice interviewing and gain confidence in responding to questions asked during job interviews. Of the total participants (n = 153), the majority were male (72.55%) with an average age of 21. Read More

Sci Rep 2020 Jul 8;10(1):11232. Epub 2020 Jul 8.

Centre for Brain and Cognitive Development, Birkbeck, University of London, Malet Street, London, WC1E 7HX, UK.

Intellectual functioning is a critical determinant of economic and personal productivity. Identifying early neural predictors of cognitive function in infancy will allow us to map the neurodevelopmental pathways that underpin individual differences in intellect. Here, in three different cohorts we investigate the association between a putative neurophysiological indicator of information encoding (change in frontal theta during a novel video) in infancy and later general cognitive outcome. Read More

eNeuro 2020 Jul 8. Epub 2020 Jul 8.

Department of Neuroscience and Physiology, SUNY Upstate Medical University, 505 Irving Ave, Syracuse, NY, 13210, USA

Disruptions in neuronal dendrite development alter brain circuitry and are associated with debilitating neurological disorders. Nascent apical dendrites of cortical excitatory neurons project into the marginal zone (MZ), a cell-sparse layer characterized by intense chondroitin sulfate proteoglycan (CSPG) expression. Paradoxically, CSPGs are known to broadly inhibit neurite growth and regeneration. Read More

Dis Model Mech 2020 Jul 8. Epub 2020 Jul 8.

Department of Chemistry and Biotechnology, Tallinn University of Technology, Akadeemia tee 15 Tallinn 12618, Estonia

Mammalian Transcription Factor 4 (TCF4) has been linked to schizophrenia and intellectual disabilities like Pitt-Hopkins syndrome (PTHS). Here we show that similarly to mammalian TCF4, fruit fly orthologue Daughterless (Da) is expressed widely in the brain. Furthermore, silencing of using several central nervous system-specific Gal4 driver lines, impairs appetitive associative learning of the larvae and leads to decreased levels of the synaptic proteins Synapsin (Syn) and discs large 1 (dlg1) suggesting the involvement of Da in memory formation. Read More

J Int Neuropsychol Soc 2020 Jul 9:1-9. Epub 2020 Jul 9.

Kennedy Krieger Institute, Baltimore, MD, USA.

Objective: Executive function (EF) difficulties are commonly found in youth with intellectual disability (ID). Given mixed results from studies using performance-based EF measures, the EF profile has not been well characterized for this population. No published work has examined the clinical utility of the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF2) in distinguishing EF in ID. Read More

PLoS One 2020 8;15(7):e0235925. Epub 2020 Jul 8.

Gustaf H. Carlson School of Chemistry and Biochemistry, Clark University, Worcester, MA, United States of America.

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by speech impairment, intellectual disability, ataxia, and epilepsy. AS is caused by mutations in the maternal copy of UBE3A located on chromosome 15q11-13. UBE3A codes for E6AP (E6 Associated Protein), a prominent member of the HECT (Homologous to E6AP C-Terminus) E3 ubiquitin ligase family. Read More

Rev Assoc Med Bras (1992) 2020 May 3;66(5):600-606. Epub 2020 Jul 3.

Rehabilitation Research Chair, College of Applied Medical Sciences, King Saud University, Riyadh, KSA.

OBJECTIVE Lower physical fitness and poor motor performance were shown to be linked with higher levels of oxidative stress in children and adolescents with intellectual disabilities. Therefore, a moderate aerobic exercise for 12-weeks was performed to evaluate the effects of physical activity scores on motor functions, oxidative stress, and intelligence quotients (IQ) in school children with intellectual disability. METHODS A total of 65 school children aged (12-18 Yrs) were randomly included in this study. Read More

Front Psychol 2020 19;11:1212. Epub 2020 Jun 19.

Center for Teacher Education, University of Vienna, Vienna, Austria.

According to literature, students' attitudes toward peers with disabilities are crucial for the social inclusion of students with disabilities. Therefore, knowledge about students' behavioral intention to interact with peers with intellectual disability (ID) can help improve the social inclusion of students with ID. This study aimed to examine the psychometric properties of the Arabic version of the Behavioral Intention to Interact with Peers with Intellectual Disability Scale (BIS). Read More

Cardiol Young 2020 Jul 8:1-3. Epub 2020 Jul 8.

Department of Medical Genetics, Van Training and Research Hospital, Van, Turkey.

Cardio-facio-cutaneous syndrome is a genetic anomaly characterised by craniofacial dysmorphia, developmental retardation, skin lesions, mental retardation/learning disability, and cardiac malformations. Cardio-facio-cutaneous syndrome rarely causes arrhythmias and has not been previously associated with long QT in the literature. With this report, it was aimed to draw attention to a different presentation of the long QT syndrome. Read More

Mov Disord 2020 Jul 7. Epub 2020 Jul 7.

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

Background: The mutations of KCNMA1 BK-type K channel have been identified in patients with various movement disorders. The underlying pathophysiology and corresponding therapeutics are lacking.

Objectives: To report our clinical and biophysical characterizations of a novel de novo KCNMA1 variant, as well as an effective therapy for the patient's dystonia-atonia spells. Read More

Anesth Prog 2020 Jun;67(2):98-102

Department of Dental Anesthesiology, Faculty of Dental Science, Kyushu University, Fukuoka, Japan.

Airway management for patients with craniofacial disorders poses many challenges. Congenital infiltrating lipomatosis of the face (CILF) is an extremely rare disorder in which mature lipocytes invade adjacent tissues in the head and neck. The manifestations are typically unilateral, often with associated hypertrophy of both the hard and soft tissues of the face. Read More

Diabet Med 2020 Jul 7. Epub 2020 Jul 7.

School of Nursing and Midwifery, Queens University, Belfast, UK.

Aim: To compare the frequency and factors associated with diabetes medication-taking (depression, perceived side effects, self-efficacy and social support) in people with mild to moderate intellectual disability and those without intellectual disability.

Methods: In stage 1 of this study, we collated information on diabetes medication-taking and associated factors in 111 people with diabetes: 33 adults with mild to moderate intellectual disability and 78 adults without intellectual disability. Validated instruments measuring medicine-taking, self efficacy, depressive symptoms, perceived level of social support and perceived side effects were administered in both groups. Read More

Sci Rep 2020 Jul 6;10(1):11099. Epub 2020 Jul 6.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, 95817 CA, USA.

Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder that affects movement and cognition in male and female carriers of a premutation allele of 55-200 CGG repeats in the Fragile X mental retardation (FMR1) gene. It is currently unknown if and when an individual carrier of a premutation allele will develop FXTAS, as clinical assessment fails to identify carriers at risk before significant neurological symptoms are evident. The primary objective of this study was to investigate the alternative splicing landscape at the FMR1 locus in conjunction with brain measures in male individuals with a premutation allele enrolled in a very first longitudinal study, compared to age-matched healthy male controls, with the purpose of identifying biomarkers for early diagnosis, disease prediction and, a progression of FXTAS. Read More

Brain Sci 2020 Jul 1;10(7). Epub 2020 Jul 1.

Sleep Research Centre, Department of Neurology I.C., Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Cognitive impairment is frequent in pediatric cancer, and behavioral and psychological disturbances often also affect children who have survived cancer problems. Furthermore, pediatric tumors are also often associated with sleep disorders. The interrelationship between sleep disorders, neurodevelopmental disorders and pediatric cancer, however, is still largely unexplored. Read More

Brain Sci 2020 Jun 30;10(7). Epub 2020 Jun 30.

Department of Public Health, University of Naples "Federico II", 80131 Naples, Italy.

Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Read More

J Appl Res Intellect Disabil 2020 Jul 6. Epub 2020 Jul 6.

Department of Primary and Community Care, Intellectual Disabilities and Health, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.

Background: People with intellectual disabilities (ID) depend on their environment to live healthily. Asset-based health promotion enhances a settings' health-promoting capacity starting with identifying protective or promotive factors that sustain health.

Method: This inclusive mixed-methods study used group sessions to generate and rank ideas on assets supporting healthy nutrition and physical activity in Dutch intellectual disability care settings. Read More

J Interpers Violence 2020 Jul 4:886260520936372. Epub 2020 Jul 4.

Universitat de Barcelona, Spain.

People with intellectual disabilities appear to be more vulnerable to victimization. However, few studies have assessed victimization in these groups and those that do exist are highly heterogeneous and tend to focus only on specific forms of violence. This study attempts to shed light on the phenomenon of victimization among adults with intellectual disabilities by assessing victimization and poly-victimization throughout their life course. Read More

J Appl Res Intellect Disabil 2020 Jul 6. Epub 2020 Jul 6.

Department of Psychology, Université du Québec à Montréal, Montréal, QC, Canada.

Background: ETAP-1 was created to evaluate the quality of services trajectory from families' perspective. The items of ETAP-1 were developed from previous studies on integrated care, existing quality assessments, and consultations with families and experts in evaluation and in autism spectrum disorder (ASD).

Method: The questionnaire was completed by 200 parents of children aged 5 and under who were recently diagnosed with ASD or intellectual disability. Read More

J Appl Res Intellect Disabil 2020 Jul 6. Epub 2020 Jul 6.

Campus for Ageing and Vitality, CNTW NHS Trust, Newcastle upon Tyne, UK.

Background: Therapeutic untruths (TU) are used in dementia services to de-escalate distressing situations. The present authors explored the use of TU by care staff supporting people with an intellectual disability who displayed behaviours that challenged.

Method: Data were collected from 126 staff (female = 72. Read More

J Intellect Disabil Res 2020 Jul 6. Epub 2020 Jul 6.

Department of Mental Health, Ministry of Health, Ankara, Turkey.

Background: Turkey is the country hosting the largest number of refugees from Syria, with currently 3 571 175 million persons. The general health needs of the refugees are being addressed; however, people with intellectual disabilities (IDs), particularly children, are relatively missed. The aim of this study was to identify medical, psychological and social needs of children with ID and their families, among the Syrian refugee population in Turkey, and to define psychosocial and cultural needs for planning of future services. Read More

Int J Med Sci 2020 23;17(10):1315-1319. Epub 2020 May 23.

Oasi Research Institute-IRCCS, Troina (EN), Italy.

Trisomy 21, also known as Down Syndrome (DS), is the most common chromosome abnormality and causes intellectual disability. Long non-coding RNA (lncRNA) growth arrest-specific 5 (), whose differential expression has recently been reported in patients with Klinefelter syndrome, has been addressed to play a role in the development of inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, all being common features in patients with DS. Therefore, the aim of this study was to assess the lncRNA expression profile in DS patients and in controls. Read More

Genet Med 2020 Jul 6. Epub 2020 Jul 6.

Invitae, San Francisco, CA, USA.

Disabil Health J 2020 Jun 18:100952. Epub 2020 Jun 18.

Wayne State University, United States.

Background: Children with intellectual and developmental disabilities (IDD) often experience increased barriers to engaging in physical activity (PA) which can stem from lack of gross motor function (GMF) development. Intervening on GMF at an early age can create better opportunities for children with IDD to engage in regular PA. In turn, increased PA can improve health outcomes and increase social skills. Read More

Brain Dev 2020 Jul 2. Epub 2020 Jul 2.

Department of Educational Sciences, Faculty of Human Development, University of Toyama, Toyama, Japan. Electronic address:

Background: Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy.

Methods: The study included 13 boys and 17 girls of mean age 9. Read More

Circulation 2020 Jul 6. Epub 2020 Jul 6.

Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Mannheim and Berlin, Germany.

Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptoms, such as typical facial dysmorphisms, short stature, developmental delay, intellectual disability as well as cardiac hypertrophy. The underlying mechanism is a gain-of-function of the RAS-MAP kinase (MAPK) signaling pathway. However, our understanding of the pathophysiological alterations and mechanisms, especially of the associated cardiomyopathy, remains limited and effective therapeutic options are lacking. Read More

Brain Topogr 2020 Jul 4. Epub 2020 Jul 4.

Department of Medicine (Austin Health), The University of Melbourne, Heidelberg, VIC, 3084, Australia.

Head motion is a significant barrier to functional MRI (fMRI) in patients who are unable to tolerate awake scanning, including young children or those with cognitive and behavioural impairments. General anaesthesia minimises motion and ensures patient comfort, however the optimal anaesthesia regimen for fMRI in the paediatric setting is unknown. In this study, we tested the feasibility of anaesthetised fMRI in 11 patients (mean age = 9. Read More

Res Dev Disabil 2020 Jul 2;105:103722. Epub 2020 Jul 2.

Oasi Research Institute - IRCCS, Troina, Italy.

Background: Smartphone-aided programs were recently developed to support leisure engagement and communication with distant partners in individuals with special needs. This study evaluated an extended smartphone-aided program that supported daily activities in addition to communication and leisure in individuals with intellectual and visual or visuo-motor disabilities.

Method: Six participants were involved who had been exposed to an earlier smartphone-aided program supporting communication and leisure. Read More

Eur J Med Genet 2020 Jul 2:103998. Epub 2020 Jul 2.

Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Germany. Electronic address:

Autosomal-recessive spinocerebellar ataxia type 18 (SCAR18) is a rare neurologic disorder. It is caused by bi-allelic aberrations in the GRID2 gene, encoding an ionotropic glutamate receptor. In total, 20 affected individuals with mainly homozygous/compound heterozygous intragenic deletions/duplications, two different missense variants and one nonsense variant in GRID2 have been reported, so far. Read More

Eur J Med Genet 2020 Jul 2:103996. Epub 2020 Jul 2.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding heterooctameric ATP-sensitive potassium (K) channels. CS shows considerable clinical overlap with Zimmermann-Laband syndrome (ZLS), a rare condition with coarse facial features, hypertrichosis, gingival overgrowth, intellectual disability of variable degree, and hypoplasia or aplasia of terminal phalanges and/or nails. ZLS is caused by heterozygous gain-of-function variants in KCNH1 or KCNN3, and gain-of-function KCNK4 variants underlie the clinically similar FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) syndrome; KCNH1, KCNN3 and KCNK4 encode potassium channels. Read More

Curr Opin Genet Dev 2020 Jul 1;65:103-111. Epub 2020 Jul 1.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 EN Nijmegen, The Netherlands. Electronic address:

Rare genetic variants that disrupt speech development provide entry points for deciphering the neurobiological foundations of key human capacities. The value of this approach is illustrated by FOXP2, a transcription factor gene that was implicated in speech apraxia, and subsequently investigated using human cell-based systems and animal models. Advances in next-generation sequencing, coupled to de novo paradigms, facilitated discovery of etiological variants in additional genes in speech disorder cohorts. Read More

Neurobiol Dis 2020 Jul 2;143:105006. Epub 2020 Jul 2.

Department of Pathology, University of Arizona College of Medicine, College of Pharmacy, Tucson, AZ, USA. Electronic address:

T-type calcium channels, in the central nervous system, are involved in the pathogenesis of many neurodegenerative diseases, including TAF1 intellectual disability syndrome (TAF1 ID syndrome). Here, we evaluated the efficacy of a novel T-type Ca channel enhancer, SAK3 (ethyl 8'-methyl-2', 4-dioxo-2-(piperidin-1-yl)-2'H-spiro [cyclopentane-1, 3'-imidazo [1, 2-a] pyridine]-2-ene-3-carboxylate) in an animal model of TAF1 ID syndrome. At post-natal day 3, rat pups were subjected to intracerebroventricular (ICV) injection of either gRNA-control or gRNA-TAF1 CRISPR/Cas9 viruses. Read More

Gene 2020 Jul 1:144918. Epub 2020 Jul 1.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

Homozygous mutations of ALDH5A1 have been reportedly associated with Succinic semialdehyde dehydrogenase deficiency (SSADHD) that affects gamma-aminobutyric acid (GABA) catabolism and evinces a wide range of clinical phenotype from mild intellectual disability to severe neurodegenerative disorders. We report clinical and molecular data of a Lor family with 2 affected members presenting with severe intellectual disability, developmental delay, and generalized tonic-clonic seizures. A comprehensive genetic study that included whole-exome sequencing identified a homozygous missense substitution (NM_001080:c. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(5):138-145

Research Clinical Institute of Pediatric of Pirogov Russian National Research Medical University, Moscow, Russia.

A review of publications over the last two decades is presented. Psychogenic paroxysms develop in approximately 12% of patients with epilepsy. The analysis of social and demographic data, history details, semiological features and results of electrophysiological and neuroimaging studies does not unequivocally support the comorbidity of epilepsy and psychogenic paroxysms. Read More

Nat Commun 2020 Jul 3;11(1):3351. Epub 2020 Jul 3.

Department of Biology, University of Pennsylvania, Philadelphia, PA, 19104, USA.

The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls the resting membrane potentials of neurons. The auxiliary subunits of the channel and their functions in mammals are largely unknown. In this study, we demonstrate that two large proteins UNC80 and UNC79 are subunits of the NALCN complex. Read More

BMC Psychiatry 2020 Jul 3;20(1):349. Epub 2020 Jul 3.

Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, 187-8551, Japan.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare spongiform leukodystrophy that is characterized by macrocephaly, progressive motor dysfunction, and mild mental retardation. It is very rare for mental illness such as psychotic disorders, affective disorders and anxiety disorders to occur in MLC.

Case Presentation: A 17-year-old boy was admitted to our hospital after he developed symptoms of depressive state with catatonia after being diagnosed as having MLC with confirmed MLC1 mutation. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jul;37(7):785-788

Children's Hospital Affiliated of Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450003, China.

Objective: To delineate the nature and origin of chromosomal aberration in a girl with mental retardation.

Methods: Genomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jul;37(7):736-738

Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.

Objective: To explore the genetic basis of a Chinese patient featuring global developmental delay.

Methods: Peripheral venous blood samples from the proband and his parents and sister were taken for the extraction of DNA. Target capture and next generation sequencing was carried out to detect genetic variants associated with the disease. Read More

Int J Neuropsychopharmacol 2020 Jul 3. Epub 2020 Jul 3.

Department of Psychology, University of Illinois at Chicago, Chicago, IL.

Background: Several cases of autism spectrum disorder (ASD) have been linked to mutations in the SHANK3 gene. Haploinsufficiency of the SHANK3 gene contributes to Phelan-McDermid syndrome, which often presents an ASD phenotype along with moderate to severe intellectual disability. A SHANK3 gene deletion in mice results in elevated excitation of cortical pyramidal neurons that alters signaling to other brain areas. Read More

Am J Med Genet A 2020 Jul 2:e61730. Epub 2020 Jul 2.

Aix Marseille University, Inserm, MMG, Marseille, France.

We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability, absent speech, hearing impairment, short stature, subglottic stenosis, increased length of the palpebral fissures, onychodysplasia of index fingers, scoliosis, genu valgum, and malpositioned toes. Two other individuals from the extended family with similar clinical features are also described. Array-CGH did not reveal any pathological copy number variation. Read More

Nat Rev Neurol 2020 Jul 2. Epub 2020 Jul 2.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

BMC Pediatr 2020 Jul 2;20(1):327. Epub 2020 Jul 2.

Department of Nephrology, National Clinical Research Center For Child Health, The Children's Hospital, Zhejiang University School of Medicine, #57 Zhugan Lane, Hangzhou, Zhejiang Province, 310003, P.R. China.

Background: 13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosis of this rare disease.

Case Presentation: We report a patient harboring an 11. Read More