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Developmental disabilities

Oscar Marín
There is a growing understanding that pathological genetic variation and environmental insults during sensitive periods in brain development have long-term consequences on brain function, which range from learning disabilities to complex psychiatric disorders such as schizophrenia. Furthermore, recent experiments in animal models suggest that therapeutic interventions during sensitive periods, typically before the onset of clear neurological and behavioral symptoms, might prevent or ameliorate the development of specific pathologies...
October 26, 2016: Nature Medicine
Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations...
September 2016: Molecular Syndromology
Alicia Dixon-Ibarra, Simon Driver, Haley VanVolkenburg, Kathleen Humphries
Physical inactivity and high rates of chronic conditions is a public health concern for adults with intellectual disability. Few health promotion programs target the group home setting which is the pre-dominant form of residential accommodation for persons with intellectual disability. A process evaluation of a physical activity health promotion program, Menu-Choice, was conducted with five group home sites for adults with intellectual and developmental disabilities. Menu-Choice assists group home staff in including physical activity goals within resident schedules...
October 5, 2016: Evaluation and Program Planning
Shaobin Lin, Yi Zhou, Qun Fang, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Yanmin Luo
The current study presents the cases of two unrelated patients with similar clinical features, including craniofacial anomalies, developmental delay/intellectual disability and cardiac malformations, that are consistent with chromosome 10q26 deletion syndrome. High‑resolution single‑nucleotide polymorphism analysis revealed that 10q26 terminal deletions were present in these two patients. The locations and sizes of the 10q26 deletions in these two patients were compared with the locations and sizes of 10q26 deletions in 30 patients recorded in the DECIPHER database and 18 patients characterized in previous studies through chromosomal microarray analysis...
October 19, 2016: Molecular Medicine Reports
Karen Spruyt, Jian-Sheng Lin
No abstract text is available yet for this article.
November 2016: CNS Neuroscience & Therapeutics
Jung Min Ko, Jae So Cho, Yongjin Yoo, Jieun Seo, Murim Choi, Jong-Hee Chae, Hye-Ran Lee, Tae-Joon Cho
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity...
October 24, 2016: Journal of Child Neurology
Hsin-Yi Kathy Cheng, Li-Ying Chen, Chih-Hsiu Cheng, Yan-Ying Ju, Chia-Ling Chen, Kevin C Tseng
BACKGROUND: Identifying disability early in life confers long-term benefits for children. The Taipei City Child Development Screening tool, second version (Taipei II) provides checklists for 13 child age groups from 4 months to 6 years. However, the usability of a text-based screening tool largely depends on the literacy level and logical reasoning ability of the caregivers, as well as language barriers caused by increasing numbers of immigrants. OBJECTIVE: The objectives of this study were to (1) design and develop a Web-based multimedia version of the current Taipei II developmental screening tool, and (2) investigate the measurement equivalence of this multimedia version to the original paper-based version...
October 24, 2016: Journal of Medical Internet Research
Yuri A Zarate, Jennifer L Fish
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines...
October 24, 2016: American Journal of Medical Genetics. Part A
Rebekah S Decker
Within each synovial joint, the articular cartilage is uniquely adapted to bear dynamic compressive loads and shear forces throughout the joint's range of motion. Injury and age-related degeneration of the articular cartilage often lead to significant pain and disability, as the intrinsic repair capability of the tissue is extremely limited. Current surgical and biological treatment options have been unable to restore cartilage de novo. Before successful clinical cartilage restoration strategies can be developed, a better understanding of how the cartilage forms during normal development is essential...
October 20, 2016: Seminars in Cell & Developmental Biology
Nadia A Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS: We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17. In addition, whole-exome sequencing identified a homozygous splicing mutation (c...
October 21, 2016: Orphanet Journal of Rare Diseases
Bruno Facon, David Magis
Purpose: An item analysis of Bishop's (1983) Test for Reception of Grammar (TROG) in its French version (F-TROG; Lecocq, 1996) was conducted to determine whether the difficulty of items is similar for participants with or without intellectual disability (ID). Method: In Study 1, responses to the 92 F-TROG items by 55 participants with Down syndrome (DS), 55 with ID of undifferentiated etiology (UND), and 55 typical children (TYP) matched on their F-TROG total score were compared using the transformed item difficulties method, a statistical approach designed to detect differential item functioning (DIF) between groups...
October 20, 2016: Journal of Speech, Language, and Hearing Research: JSLHR
Abdullah Turhan, Simone Onrust, Peter Ten Klooster, Marcel Pieterse
AIMS: To test effectiveness of the Healthy School and Drugs (HSD) program on tobacco and alcohol use in Dutch secondary special education (SE) schools, and whether this depends on subtypes of SE-schools and the level of implementation. DESIGN: In a quasi-experimental design with baseline and post-treatment follow-up 35 classes (N = 363) were allocated arbitrarily or depending on teacher motivation to either intervention condition (N = 205) or usual curriculum (N = 158)...
October 21, 2016: Addiction
Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul Tiesinga, Dirk Schubert, Nael Nadif Kasri
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks...
October 21, 2016: Scientific Reports
K Malkiewicz, E Malkiewicz, K A Eaton, E Widström
Poland is one of the largest European countries in terms of area and population. The country's economic situation does not allow for the allocation of sufficient public funds for healthcare in general and oral healthcare in particular. The health policy of the state focuses primarily on prophylaxis and treatment of diseases, directly threatening the health and lives of the inhabitants. Currently, expenditure on oral health accounts for only 2.7% of the public funds allocated to healthcare. In this context, providing oral care financed from public funds at an appropriate level constitutes a challenge for state institutions, centres providing medical and dental services and private practices...
October 21, 2016: British Dental Journal
Nirbhay N Singh, Giulio E Lancioni, Bryan T Karazsia, Jeffrey Chan, Alan S W Winton
Caregivers of individuals with intellectual and developmental disabilities (IDD) often end up having their medical and psychological well-being compromised due to the stressful nature of caregiving, especially when those in their care engage in aggressive behavior. In this study, we provided caregivers with mindfulness-based training to enable them to better manage their psychological well-being and, through this, to also enhance specific indices of quality of life of the individuals in their care. Thus, the aim of the present study was to evaluate in a randomized controlled trial (RCT) the comparative effectiveness of Mindfulness-Based Positive Behavior Support (MBPBS) and Training-as-Usual (TAU) for caregivers in a congregate care facility for individuals with severe and profound IDD...
2016: Frontiers in Psychology
Kaori Tamura, Takaaki Mizuba, Tsuyoshi Okamoto, Mayumi Matsufuji, Sachio Takashima, Keiji Iramina
INTRODUCTION: The level of residual cognitive function in patients with early brain injury is a key factor limiting rehabilitation and the quality of life. Although understanding residual function is necessary for appropriate rehabilitation, the extent of its effects on cognitive improvement remains unknown. The present study evaluated cognitive function in patients with severe motor and intellectual disabilities after early brain injuries due to cerebral hemorrhage (CH) or periventricular leukomalacia (PVL)...
October 18, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Mary Anne D Chiong, Marilyn A Tan, Cynthia P Cordero, Esphie Grace D Fodra, Judy S Manliguis, Cristine P Lopez, Leslie Michelle M Dalmacio
BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy deprivation are suggested. It is therefore the aim of this study to determine the plasma amino acid and urine organic acid profiles of patients with MSUD and correlate the findings with their neurologic features...
December 2016: Molecular Genetics and Metabolism Reports
Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Claudia Compagnucci, Emanuela Piermarini, Antonella Sferra, Rossella Borghi, Alessia Niceforo, Stefania Petrini, Fiorella Piemonte, Enrico Bertini
Patient-derived induced pluripotent stem cells (iPSCs) provide a novel tool to investigate the pathophysiology of poorly known diseases, in particular those affecting the nervous system, which has been difficult to study for its lack of accessibility. In this emerging and promising field, recent iPSCs studies are mostly used as "proof-of-principle" experiments that are confirmatory of previous findings obtained from animal models and postmortem human studies; its promise as a discovery tool is just beginning to be realized...
October 15, 2016: Molecular and Cellular Neurosciences
Renée J F van den Heuvel, Monique A S Lexis, Luc P de Witte
The aim of this study was to explore the application of the IROMEC (Interactive social RObotic Mediators as Companions) robot to support play for children with severe physical disabilities in rehabilitation and special education. Within a 2-month pilot study, physically disabled children with a developmental age between 2 and 8 years participated in sessions with the robot. A combination of qualitative and quantitative outcome measures was used to collect data on aspects of feasibility, usability, barriers for the child as well as the therapist and an indication of the effects on playfulness and the achievement of therapeutic and educational goals...
October 17, 2016: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
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