Search Our Scientific Publications & Authors

Neurosci Lett 2019 Feb 16. Epub 2019 Feb 16.

Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, 60611 IL, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, 60611 IL, USA; Northwestern University Center for Autism and Neurodevelopment, Chicago IL 60611, USA. Electronic address:

GABAergic interneurons are emerging as prominent substrates in the pathophysiology of multiple neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, and epilepsy. Interneuron excitatory activity is influenced by 2-amino-3-(3-hydroxy-5-methyl-isoxazol-4-yl) propanoic acid receptors (AMPARs), which in turn affects excitatory transmission in the central nervous system. Yet how dysregulation of interneuronal AMPARs distinctly contributes to the molecular underpinning of neurobiological disease is drastically underexplored. Read More

Prenat Diagn 2019 Feb 18. Epub 2019 Feb 18.

Service de Génétique, CHRU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.

Objective: Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, is caused by an expansion over 200 CGG repeats (full mutation) in the FMR1 gene. Intergenerational instability of an expanded FMR1 allele is linked to the carrier's gender (female), the CGG repeat size and the number of AGG interspersions within the CGG repeat, making genetic counseling a complex task. The objective of our work was to emphasize the importance of combining haplotype analysis with FMR1 linked markers and CGG repeat sizing for prenatal diagnosis (PND) of FXS. Read More

Hormones (Athens) 2019 Feb 18. Epub 2019 Feb 18.

Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylül University, 35340, Balçova, Izmir, Turkey.

There are numerous causes, such as environmental factors, medications, endocrine disorders, and genetic factors, that can lead to obesity. However, severe early-onset obesity with abnormal feeding behavior, mental retardation, dysmorphic features, organ-specific developmental abnormalities, and endocrine disorders suggest a genetic etiology. Mutations in genes related to the leptin-melanocortin pathway play a key role in genetic obesity. Read More

Hum Genet 2019 Feb 18. Epub 2019 Feb 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional hydrogen bonds are thought to enhance RNA stability. Pseudouridine synthases are encoded in humans by 13 genes, two of which are linked to Mendelian diseases: PUS1 and PUS3. Read More

Mamm Genome 2019 Feb 18. Epub 2019 Feb 18.

Department of Human Genetics, University of Michigan, 5705 Medical Science II, 1241 Catherine St., Ann Arbor, MI, 48109-5618, USA.

Maternal and fetal sources of thyroid hormone are important for the development of many organ systems. Thyroid hormone deficiency causes variable intellectual disability and hearing impairment in mouse and man, but the basis for this variation is not clear. To explore this variation, we studied two thyroid hormone-deficient mouse mutants with mutations in pituitary-specific transcription factors, POU1F1 and PROP1, that render them unable to produce thyroid stimulating hormone. Read More

Eur J Hum Genet 2019 Feb 18. Epub 2019 Feb 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have been shown to cause autosomal recessive non-spherocytic hemolytic anemia, autosomal recessive Russe type hereditary motor and sensory neuropathy, and autosomal dominant retinitis pigmentosa (adRP). We report seven patients from six unrelated families with a neurodevelopmental disorder associated with developmental delay, intellectual disability, structural brain abnormality, and visual impairments in whom we identified four novel, de novo missense variants in the N-terminal half of HK1. Read More

An Pediatr (Barc) 2019 Feb 15. Epub 2019 Feb 15.

Grupo SEN34-36/ACUNA, Sociedad Española de Neonatología, España; Servicio de Pediatría-Neonatología, SCIAS, Hospital Barcelona, Barcelona, España.

The population of late preterm infants (PT), those born between 34+0 and 36+6 weeks of gestation, accounts for 70-74% of all premature infants, and is not specifically included in most of the follow-up protocols for preterm infants. For many years, PTs have been handled as if they were term newborns, which has led to a limited knowledge of their outcome in the medium and long term. Their neonatal morbidity is associated with a higher incidence of postnatal complications, with an increased rate of hospital re-admissions due to malnutrition, hyperbilirubinaemia, and respiratory problems, when compared to term infants. Read More

Eur J Radiol 2019 Mar 15;112:144-152. Epub 2019 Jan 15.

Department of Neuroradiology, University Hospital Tübingen, Eberhard Karls University, Tübingen, Germany.

Purpose: The aim of the study was to assess the predictive value of preoperatively assessed diffusion kurtosis imaging (DKI) metrics as prognostic factors in the 2016 World Health Organization Classification of Tumors of the Central Nervous System integrated glioma groups.

Material And Methods: Seventy-seven patients with histopathologically confirmed treatment-naïve glioma were retrospectively assessed between 08/2013 and 10/2017 using mean kurtosis (MK) and mean diffusivity (MD) histogram parameters from DKI, overall and progression-free survival, and relevant prognostic molecular data (isocitrate dehydrogenase, [IDH]; alpha-thalassemia/mental retardation syndrome X-linked, [ATRX]; chromosome 1p/19q loss of heterozygosity). Receiver operating characteristic (ROC) analysis was performed on metric variables to determine the optimal cutoff-values. Read More

Am J Prev Med 2019 Mar;56(3):376-382

Department of Obstetrics and Gynecology, Oregon Health & Science University, Portland, Oregon; National Institute of Public Health, Cuernavaca, Mexico.

Introduction: Prior studies have found that women with disabilities are less likely to receive adequate prenatal care than women without disabilities. However, little is known about differences in patterns of prenatal care by type of disability. Therefore, this study examined timing and frequency of prenatal care among women with physical, sensory, or intellectual/developmental disabilities compared with women without disabilities. Read More

Medicina (B Aires) 2019 ;79 Suppl 1:22-26

Facultad de Psicología, Universidad de Valencia, España. E-mail:

Families of children with autism spectrum disorder (ASD) can be differentiated according to sociodemographics and environmental risk factors characterized by stress parental, the use of coping strategies and social support. The aim of this study was to analyze the behavioral, emotional and social manifestations of children with ASD, related to different types of families characterized according risk factors as families with "high risk", with "moderated risk" and with "low risk". Participants were 52 mothers and their children between 7 and 11 years old with ASD without intellectual disability. Read More

Medicina (B Aires) 2019 ;79 Suppl 1:10-15

IGAIN, Instituto Global de Atención Integral al Neurodesarrollo, Barcelona, España.

Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment. Read More

Clin Endocrinol (Oxf) 2019 Feb 18. Epub 2019 Feb 18.

Endocrinology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. Read More

Acta Neurol Scand 2019 Feb 18. Epub 2019 Feb 18.

Department of Intellectual Disability Neuropsychiatry, Cornwall Partnership NHS Foundation Trust, Truro, TR1 3QB, UK.

Objectives: Sudden death is a recognised consequence of epilepsy. Little is known about the practice of confirming the cause of sudden death from most nations. We sought to determine how often autopsy is undertaken, clinician confidence in cause of death, and identify the factors which may influence autopsy utilization. Read More

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Paul Baerwald School of Social Work and Social Welfare and the Center for Disability Studies, Hebrew University of Jerusalem, Jerusalem, Israel.

Background: The relationship between ethnicity, service use and perceptions of service effectiveness is inconclusive. This study examined differences in service use and perceptions of service effectiveness between Israeli Jewish (Jewish) and Israeli Arab (Arab) parental caregivers of individuals with intellectual disabilities and dual diagnosis of psychopathology.

Methods: Parental caregivers (n = 186) of individuals with intellectual disabilities or dual diagnosis, aged 10 to 30 years, completed a self-report questionnaire. Read More

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Department of Psychology, Université de Tours, Tours, France.

Objective: The risk for the development of severe behaviour problems by individuals with intellectual disability (ID) is a well-known concern. However, there are currently no reliable instruments for assessing these behaviours in French. The Behaviour Problems Inventory - Short Form (BPI-S) assesses these three types of behaviour in people with ID: self-injurious behaviour (eight items), aggressive/destructive behaviours (10 items) and stereotypic behaviours (12 items). Read More

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Sau Po Centre on Ageing, The University of Hong Kong, Hong Kong.

Background: While accelerated ageing is recognised among individuals with Down syndrome (DS), the trajectory of their bone health across adulthood remains poorly understood.

Methods: This study aimed to determine the age-related loss of bone mineral density (BMD) of the lumbar spine in 128 adults with DS aged 18 to 54 years compared with 723 counterparts without DS.

Results: Men and women with DS had lower level of BMD than counterparts without DS across age groups. Read More

J Pediatr Genet 2019 Mar 26;8(1):10-14. Epub 2018 Dec 26.

Princess Basma Hospital, Irbid, Jordan.

Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with global developmental delay and intellectual disability. Read More

J Pediatr Genet 2019 Mar 14;8(1):1-9. Epub 2018 Dec 14.

Department of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey.

Chromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. Read More

Int J Hematol Oncol Stem Cell Res 2018 Oct;12(4):260-264

Department of Laboratory Medicine, Gyeongsang National University Hospital, Gyeongsang National University School of Medicine, Jinju, Republic of Korea.

The 5q35.2-q35.3 duplication phenotype is characterized by growth delay, microcephaly, mental retardation and delayed bone aging. Read More

Am J Med Genet A 2019 Feb 17. Epub 2019 Feb 17.

Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss-of-function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC). A two-year-old boy presented to the University of Utah's Penelope Undiagnosed Disease Program with developmental delay, nonfamilial features, relative macrocephaly, and dilated cardiomyopathy with LVNC and Ebstein anomaly. Read More

J Intellect Disabil Res 2019 Feb 18. Epub 2019 Feb 18.

Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.

Background: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings.

Methods: Chromosomal microarray analysis was performed to identify the existence of copy number variation. Read More

Zhonghua Yi Xue Za Zhi 2019 Jan;99(5):354-358

Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou 450003, China.

To analyze the clinical presentation, imaging features, and the mutation of the pathogenic genes in a Chinese Han atypical neuroaxonal dystrophy pedigree. A family of atypical neuroaxonal dystrophy pedigree who came to Henan Provincal People's Hospital in July 2016 was included. Clinical presentation, imaging features of the pedigree were analyzed, and all exon gene detection of the proband was performed to capture the target variations, then verified by sanger sequence. Read More

Gene 2019 Feb 13. Epub 2019 Feb 13.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.

Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Read More

Neurobiol Dis 2019 Feb 13. Epub 2019 Feb 13.

Vanderbilt Brain Institute, Departments of Biological Sciences, Cell and Developmental Biology, and Pharmacology, Vanderbilt University and Medical Center, Nashville, TN 37235, USA. Electronic address:

Recent work shows Fragile X Mental Retardation Protein (FMRP) drives the translation of very large proteins (>2000 aa) mediating neurodevelopment. Loss of function results in Fragile X syndrome (FXS), the leading heritable cause of intellectual disability (ID) and autism spectrum disorder (ASD). Using the Drosophila FXS disease model, we discover FMRP positively regulates the translation of the very large A-Kinase Anchor Protein (AKAP) Rugose (>3000 aa), homolog of ASD-associated human Neurobeachin (NBEA). Read More

J Autism Dev Disord 2019 Feb 15. Epub 2019 Feb 15.

Department of Teaching and Learning, Florida International University, 11200 S.W. 8th Street, Miami, FL, 33199, USA.

Students with autism spectrum disorder (ASD) and intellectual disability (ID) may experience challenges when learning tasks that are complex and require numerous steps. This difficulty can lead to employment issues for this population of learners. Therefore, researchers have explored methods to teach employment-related tasks to students with ASD and ID. Read More

Eur J Hum Genet 2019 Feb 15. Epub 2019 Feb 15.

School of Neurobiology Biochemistry and Biophysics, Sagol School of Neurosciences, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal ganglia disease. Exome analysis disclosed a homozygous variant, c. Read More

Brain Sci 2019 Feb 15;9(2). Epub 2019 Feb 15.

Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 91031, Israel.

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a deficiency in the fragile X mental retardation protein (FMRP) due to a CGG repeat expansion in the 5'-UTR of the X-linked gene. When CGGs expand beyond 200 copies, they lead to epigenetic gene silencing of the gene. Read More

Am J Med Genet A 2019 Feb 15. Epub 2019 Feb 15.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4-NOT complex. Read More

J Am Acad Child Adolesc Psychiatry 2019 Jan 8. Epub 2019 Jan 8.

National Centre for Register- based Research, School of Business and Social Sciences, Aarhus University, Aarhus, Denmark, and The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark; Hospital of Telemark, Kragerø, Norway.

Objective: To investigate sex differences in associations between attention-deficit/hyperactivity disorder (ADHD) and a spectrum of comorbid disorders.

Method: The study population included all children born in Denmark between 1981 and 2013 (N=1,665,729). We merged data from Danish registers and obtained information on birth characteristics, socioeconomic status, familial psychiatric history, and diagnoses of ADHD (n=32,308) and comorbid disorders. Read More

Br J Psychiatry 2019 Feb 15:1-8. Epub 2019 Feb 15.

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

Background: Rare copy number variants (CNVs) are associated with risk of neurodevelopmental disorders characterised by varying degrees of cognitive impairment, including schizophrenia, autism spectrum disorder and intellectual disability. However, the effects of many individual CNVs in carriers without neurodevelopmental disorders are not yet fully understood, and little is known about the effects of reciprocal copy number changes of known pathogenic loci.AimsWe aimed to analyse the effect of CNV carrier status on cognitive performance and measures of occupational and social outcomes in unaffected individuals from the UK Biobank. Read More

J Intellect Disabil Res 2019 Feb 14. Epub 2019 Feb 14.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

Background: Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. Nearly all individuals with KS have cognitive difficulties, and most have intellectual disability. Recent studies on a mouse model of KS suggest disruption of normal adult neurogenesis in the granule cell layer of the dentate gyrus of the hippocampus. Read More

J Hum Genet 2019 Feb 14. Epub 2019 Feb 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

We herein report two individuals with novel nonsense mutations in STAG2 on Xq25, encoding stromal antigen 2, a component of the cohesion complex. A male fetus (Case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. Another female patient (Case 2) showed a distinct phenotype with white matter hypoplasia, cleft palate, developmental delay (DD), and intellectual disability (ID) at 7 years. Read More

Proc Natl Acad Sci U S A 2019 Feb 14. Epub 2019 Feb 14.

Program in Molecular Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada;

Activity-dependent translation requires the transport of mRNAs within membraneless protein assemblies known as neuronal granules from the cell body toward synaptic regions. Translation of mRNA is inhibited in these granules during transport but quickly activated in response to neuronal stimuli at the synapse. This raises an important question: how does synaptic activity trigger translation of once-silenced mRNAs? Here, we demonstrate a strong connection between phase separation, the process underlying the formation of many different types of cellular granules, and in vitro inhibition of translation. Read More

Disabil Health J 2019 Feb 1. Epub 2019 Feb 1.

Mongan Institute Health Policy Center, Massachusetts General Hospital, United States; Department of Medicine, Harvard Medical School, United States. Electronic address:

Background: Many factors contribute to the well-recognized health care disparities experienced by persons with disability, including failure of physicians to understand the lives of individuals with disability. Disability cultural competence considers physicians' ability to meet the social, cultural, and linguistic needs of this population.

Objectives: To assess physicians' understanding of disability cultural competence and attitudes towards patients with disability. Read More

Neuropsychology 2019 Feb 14. Epub 2019 Feb 14.

Alberta Children's Hospital Research Institute, Department of Pediatrics, Cumming School of Medicine, University of Calgary.

Objective: To characterize the clinical cognitive phenotypes and severity of cognitive burden according to disease subtype in children with primary central nervous system vasculitis (cPACNS).

Method: This retrospective multicenter inflammatory brain disease database study examined the neuropsychological outcomes of 80 children (44 male; mean age = 7.89 years, SD = 4. Read More

J Appl Res Intellect Disabil 2019 Feb 14. Epub 2019 Feb 14.

Centre for Disability Research, Lancaster University, Lancaster, UK.

Background: No studies have explored the acceptability of Behavioural Activation and Guided Self-Help interventions for depression with people who have intellectual disabilities.

Method: Twenty-five participants were purposively sampled from participants taking part in a trial comparing Behavioural Activation with a Guided Self-Help intervention. A framework analysis was used to analyse interviews covering participants' expectations and views of therapy. Read More

Front Public Health 2018 29;6:377. Epub 2019 Jan 29.

Malawi Council for the Handicapped, Limbe, Malawi.

Assistive technologies are one of the five elements under the Health Component of the World Health Organization CBR Guidelines that Malawi is using to implement the Community Based Inclusive Development (CBID) Programme. The technologies enhance independent living by removing barriers that come due to disability or old age and should, therefore, be prioritized. However, Malawi does not have a straightforward way of providing Assistive Technology. Read More

Lab Invest 2019 Feb 13. Epub 2019 Feb 13.

Department of Reproductive Biology, National Center for Child Health and Development, Tokyo, 157-8535, Japan.

Down syndrome is the most frequent chromosomal abnormality among live-born infants. All Down syndrome patients have mental retardation and are prone to develop early onset Alzheimer's disease. However, it has not yet been elucidated whether there is a correlation between the phenotype of Down syndrome and the extra chromosome 21. Read More

Sci Transl Med 2019 Feb;11(479)

Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1) are younger at diagnosis and live longer. mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 ) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene (). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1 mutation. Read More

J Biol Chem 2019 Feb 13. Epub 2019 Feb 13.

Dept. Biomedicine, Aarhus University, Denmark.

The P-type ATPase protein family includes, in addition to ion pumps such as Ca-ATPase and Na,K-ATPase, also phospholipid flippases that transfer phospholipids between membrane leaflets. P-type ATPase ion pumps translocate their substrates occluded between helices in the center of the transmembrane part of the protein. The large size of the lipid substrate has stimulated speculation that flippases use a different transport mechanism. Read More

J Intellect Disabil 2019 Feb 13:1744629518824899. Epub 2019 Feb 13.

University of Tehran, Iran.

The aim of this research was to examine the effectiveness of positive parenting program (Triple-P) on the mental health of mothers of children with intellectual disability (ID). This study was a quasi-experimental research with pretest, posttest design, and a control group. Thirty-six mothers of students with ID participated in this study and were divided into two groups (intervention group and control group). Read More

Brain Sci 2019 Feb 12;9(2). Epub 2019 Feb 12.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

More than ~200 CGG repeats in the 5' untranslated region of the gene results in transcriptional silencing and the absence of the encoded protein, FMRP. FMRP is an RNA-binding protein that regulates the transport and translation of a variety of brain mRNAs in an activity-dependent manner. The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS). Read More

Arq Neuropsiquiatr 2019 Jan;77(1):10-18

Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brasil.

Aims: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample.

Methods: Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients.

Results: Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. Read More

J Paediatr Child Health 2019 Feb 12. Epub 2019 Feb 12.

Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.

Aim: The aim of this study was to assess the incidence and prevalence of MECP2 duplication syndrome in Australian children and further define its phenotype.

Methods: The Australian Paediatric Surveillance Unit was used to identify children with MECP2 duplication syndrome between June 2014 and November 2017. Reporting clinicians were invited to complete a questionnaire. Read More

Trends Cancer 2019 Feb 21;5(2):82-84. Epub 2018 Dec 21.

Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425, USA. Electronic address:

The RNA-binding protein fragile-X mental retardation autosomal 1 (FXR1) is upregulated in head and neck squamous cell carcinomas (HNSCCs) and expressed as at least seven isoforms in humans. Only two of these isoforms are capable of binding to RNA containing G-quadruplex structures. We suggest that these unique isoforms play a role in the pathogenesis of HNSCC. Read More

J Psychosoc Nurs Ment Health Serv 2019 Feb 8:1-6. Epub 2019 Feb 8.

Patients with autism spectrum disorder and/or intellectual disability (ASD/ID) face unique health care challenges. In addition to hospital experiences characterized by fear and insufficient staff training, these patients have 1.5-times longer lengths of stay (LOS) than patients without ASD/ID, and 3. Read More

PLoS One 2019 12;14(2):e0211652. Epub 2019 Feb 12.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Read More

Rev Environ Health 2019 Feb 12. Epub 2019 Feb 12.

Institute of Child Health - Inborn Errors of Metabolism, Hivon and Papadiamantopoulou, Athens, Attica, Greece.

Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose (GAL) free diet. The most frequent information about the disease was mental retardation (100%), eye cataracts (100%) liver dysfunction (90. Read More

J Intellect Disabil Res 2019 Feb 12. Epub 2019 Feb 12.

Department of Special Education, Faculty of Education, University of Haifa, Haifa, Israel.

Background: Systematicity principle, used during analogical reasoning, enables building up deeper abstract concepts as part of structure mapping. The purpose of this study was to investigate structure mapping processes that occur during acquisition of new relational categories and to identify the learning patterns and systematicity of children with autism spectrum disorder (ASD) compared with intellectual and developmental disabilities (IDD) and typical development (TD). Comparison effect and level of familiarity were used to investigate structural mapping processes. Read More