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REVIEW
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie-Bitach
INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' end of exon 30 and the 5' portion of exon 31 induce Menke-Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis...
June 23, 2023: Molecular Genetics & Genomic Medicine
#22
JOURNAL ARTICLE
Sundus Abdul Ghani, Sheeba Burney, Hassan Ul Hussain, Maryam Abdul Wahid, Hassan Mumtaz
Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual disability. The clinical subtype of AM shows considerable variability in an individual, and at present, at least three clinical subtypes are suggested. Diagnosis is made by identification of deficiency of α-mannosidase activity in nucleated cells, like fibroblasts...
June 22, 2023: International Journal of Surgery
#23
JOURNAL ARTICLE
C A Melville, C Hatton, E Beer, R P Hastings, S-A Cooper, N McMeekin, D Dagnan, K Appleton, K Scott, L Fulton, R S P Jones, A McConnachie, R Zhang, R Knight, D Knowles, C Williams, A Briggs, A Jahoda
BACKGROUND: No previous studies have reported predictors and moderators of outcome of psychological therapies for depression experienced by adults with intellectual disabilities (IDs). We investigated baseline variables as outcome predictors and moderators based on a randomised controlled trial where behavioural activation was compared with guided self-help. METHODS: This study was an exploratory secondary data analysis of data collected during a randomised clinical trial...
June 21, 2023: Journal of Intellectual Disability Research: JIDR
#24
JOURNAL ARTICLE
Hongyan Xie, Shuangzhu Lin, Yang Chen, Wanqi Wang, Yangfan Qi, Jiayi Li, Qiandui Chen, Xiaochun Feng
BACKGROUND: Sandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment, exaggerated startle response, and seizures; the patients usually die before the age of 3 years...
June 16, 2023: Medicine (Baltimore)
#25
H Grimes, M Ansari, T Ashraf, Anna Mª Cueto-González, A Calder, M Day, P Fernandez Alvarez, A Foster, N Lahiri, G M Repetto, I Scurr, V Varghese, Karen J Low
PUF60-related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with PUF60-related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature...
June 11, 2023: American Journal of Medical Genetics. Part A
#26
JOURNAL ARTICLE
Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan
Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the PTRH2 gene have been suggested to cause a rare autosomal recessive disorder characterized by an infantile-onset multisystem neurologic endocrine and pancreatic disease (IMNEPD). Patients with IMNEPD present varying clinical manifestations, including global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, sensorineural hearing loss, and abnormalities of thyroid, pancreas, and liver...
April 30, 2023: Genes
#27
JOURNAL ARTICLE
Mitsunori Fujino, Masami Ojima, Shun Ishibashi, Seiya Mizuno, Satoru Takahashi
Aymé-Gripp syndrome is an autosomal dominant multisystem disorder. The major clinical features of this syndrome include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. MAF has been identified as a causative gene of the syndrome, and heterozygous variants owing to impairment in glycogen synthase kinase 3 (GSK3)-mediated MAF phosphorylation shows related disorders. However, the underlying mechanisms of these types of disorders in affected individuals remain poorly understood...
April 26, 2023: American Journal of Medical Genetics. Part A
#28
JOURNAL ARTICLE
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1 -related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform...
April 25, 2023: Journal of Medical Genetics
#29
JOURNAL ARTICLE
Minhae Cho, Eric Harlin, Jungjoon Ihm, Chi Hyun Lee
BACKGROUND: Black children are significantly overrepresented in many phases of the U.S. child welfare system. OBJECTIVE: The purpose of this study is to investigate racial disproportionality and disparities in the adoption process and factors that predict the length of time to adoption. PARTICIPANTS AND SETTING: This study utilized administrative data from the 2014 year of the Adoption and Foster Care Analysis and Reporting System (AFCARS) collected in 50 States, the District of Columbia, and Puerto Rico...
May 12, 2023: Child Abuse & Neglect
#30
JOURNAL ARTICLE
Xia Wang, Yingcan Wang, Ting Xu, Yanjie Fan, Yifeng Ding, Jihong Qian
Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490) in a Chinese case with a history of scarce leukocytosis, vision and hearing loss, frequent seizures, and severe intellectual and motor disability. Whole-exome sequencing (WES) followed by Sanger sequencing revealed novel compound heterozygous mutations in the chloride channel 7 ( CLCN7 ) gene [c...
2023: Frontiers in Pediatrics
#31
JOURNAL ARTICLE
K Iwanicka-Pronicka, A Guzek, J Sarnecki, A Tylki-Szymańska
Alpha-mannosidase catalyze lysosomal cleaving of mannose residues from glycoproteins. The enzyme is encoded by the MAN2B1 gene. Biallelic pathogenic variants cause enzymatic deficiency, which clinically results in alpha-mannosidosis (AM), an autosomal recessively inherited condition. Typical features observed in AM patients include intellectual disability, loss of speech, dysmorphic features, progressive motor problems, ataxia, hearing impairment and recurrent otitis. The cause of the latter is mainly attributed to immunodeficiency...
June 2023: International Journal of Pediatric Otorhinolaryngology
#32
JOURNAL ARTICLE
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. We report a novel recurrent variant, ATP1A3(NM_152296.5):c.2324C > T; p.(Pro775Leu), in nine individuals associated with the primary clinical features of progressive or non-progressive spasticity and developmental delay/intellectual disability...
April 12, 2023: Brain
#33
JOURNAL ARTICLE
Considerations in the Management of Functional Neurological Disorders in Patients with Hearing Loss.
Amal Abu Libdeh, Leen Alkalbani, Daniel Freedman, Julio Quezada, Sarah S Nyp
Adam is a 14-year-old adolescent boy with hearing loss who presented to the pediatric neurology clinic accompanied by his father for evaluation of new-onset left hand tremor for a duration of 1 month. An American Sign Language interpreter was present and used throughout the visit.Adam has bilateral sensorineural hearing loss related to premature birth at 28 weeks' gestation. He uses sign language and attends a school for the hearing impaired. He has been diagnosed with attention-deficit/hyperactivity disorder (ADHD) and a nonspecific learning disorder...
April 4, 2023: Journal of Developmental and Behavioral Pediatrics: JDBP
#34
REVIEW
Bolajoko O Olusanya, Tracey Smythe, Felix A Ogbo, M K C Nair, Mark Scher, Adrian C Davis
AIM: The provisions of the United Nation's Sustainable Development Goals (SDGs) for disability-inclusive education have stimulated a growing interest in ascertaining the prevalence of children with developmental disabilities globally. We aimed to systematically summarize the prevalence estimates of developmental disabilities in children and adolescents reported in systematic reviews and meta-analyses. METHODS: For this umbrella review we searched PubMed, Scopus, Embase, PsycINFO, and Cochrane Library for systematic reviews published in English between September 2015 and August 2022...
2023: Frontiers in Public Health
#35
JOURNAL ARTICLE
Cindy Parks Thomas, Maureen T Stewart, Emily Ledingham, Rachel Sayko Adams, Lee Panas, Sharon Reif
IMPORTANCE: Adverse outcomes associated with opioid use disorder (OUD) are disproportionately high among people with disabilities (PWD) compared with those without disability. A gap remains in understanding the quality of OUD treatment for people with physical, sensory, cognitive, and developmental disabilities, specifically regarding medications for OUD (MOUD), a foundation of treatment. OBJECTIVE: To examine the use and quality of OUD treatment in adults with diagnosed disabling conditions, compared with adults without these diagnoses...
March 1, 2023: JAMA Network Open
#36
JOURNAL ARTICLE
Monica Burdeus-Olavarrieta, Julián Nevado, Sabrina van Weering-Scholten, Susanne Parker, Ann Swillen
Phelan-McDermid syndrome is a genetic condition primarily caused by a deletion on the 22q13.3 region or a likely pathogenic/pathogenic variant of SHANK3. The main features comprise global developmental delay, marked impairment or absence of speech, and other clinical characteristics to a variable degree, such as hypotonia or psychiatric comorbidities. A set of clinical guidelines for health professionals covering relevant aspects of clinical management have been written by the European PMS Consortium, and consensus has been reached regarding final recommendations...
March 3, 2023: European Journal of Medical Genetics
#37
JOURNAL ARTICLE
Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, Hugo Naya, Adriana Cassina, Celia Quijano, Lucía Spangenberg
The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studies have associated homozygous or compound heterozygous mutations in SPATA5 gene to microcephaly, intellectual disability, seizures and hearing loss. This suggests a role of the SPATA5 gene also in neuronal development. Recently, our group presented results validating the use of blood cells for the assessment of mitochondrial function for diagnosis and follow-up of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsy...
February 27, 2023: Human Genomics
#38
REVIEW
Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane
Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including generalized osteoporosis, multiple long bones fractures, platyspondyly, dense cataracts and retinal detachment, and dysmorphic facial features, with or without short stature, cardiopathy, hearing impairment, and intellectual disability. Biallelic mutations in the XYLT2 gene (OMIM * 608125), encoding the xylosyltransferase II, were shown to be responsible for this disease. To date, 22 cases with SOS have been described, with varying clinical presentations and a yet-to-be-established genotypic-phenotypic correlation...
February 15, 2023: Genes
#39
Gonul Buyukyilmaz, Keziban Toksoy Adiguzel, Esra Kılıc
Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. The patient presented with osteoporosis, platyspondyly, ocular findings, hearing loss, kyphosis, scoliosis, facial findings, intellectual disability, and undescended testicles...
February 23, 2023: American Journal of Medical Genetics. Part A
#40
Ludovico Graziani, Giacomo Cinnirella, Valentina Ferradini, Chiara Conte, Federica Lo Bascio, Mario Bengala, Federica Sangiuolo, Giuseppe Novelli
Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease (AD) caused by heterozygous variants in ACTB (BRWS1) or ACTG1 (BRWS2) genes. BRWS features developmental delay/intellectual disability of variable degree and craniofacial dysmorphisms. Brain abnormalities (especially pachygyria), microcephaly, epilepsy, as well as hearing impairment, cardiovascular and genitourinary abnormalities may be present. We report on a 4-year-old female, who was addressed to our institution because of psychomotor delay associated with microcephaly and dysmorphic features, short stature, mild bilateral sensorineural hearing loss, mild cardiac septal hypertrophy, and abdominal swelling...
February 21, 2023: American Journal of Medical Genetics. Part A
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