Results 111 to 120 of about 2,462,658 (261)

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Polysomnographic findings in Rett syndrome.

European journal of paediatric neurology, 2019
INTRODUCTION Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG)
A. Amaddeo, Livio de Sanctis, J. O. Arroyo, S. Khirani, N. Bahi-Buisson, B. Fauroux   +5 more
semanticscholar   +1 more source

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers

Journal of Child Psychology and Psychiatry, EarlyView.
Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Christina K. Zigler, Molly McFatrich, Nicole Lucas, Kate Plyler, Leslie Zapata‐Leiva, Kelly Gordon, Harrison N. Jones, Li Lin, Jennifer Kern, Abigail Radar, Dandan Chen, Elika Bergelson, Kate Still, Brigette Hinger, Christal G. Delagrammatikas, Sarah Poliquin, Brittany P. Short, Liz Marfia‐Ash, Kimberly Stephens, Haley O. Oyler, J Michael Graglia, Kali Worth, Charlene Son Rigby, James R. Goss, Bo Bigelow, Geraldine Bliss, Karen Beatty, Leah Schust Myers, Melissa Thelen, Nuala Summerfield, Terry Jo Bichell, Bryce B. Reeve   +31 more
wiley   +1 more source

RettBASE: Rett syndrome database update

Human Mutation, 2017
Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT.
R. Krishnaraj, G. Ho, J. Christodoulou
semanticscholar   +1 more source

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation [PDF]

, 2006
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental ...
Badaracco G., Bertani I., Bolognese F., Conca B., De Monte L., Forlani G., Kilstrup-Nielsen C., Landsberger N., Rusconi L.   +8 more
core   +1 more source

Assessment of Posttraumatic Stress Disorder in Adults With Severe or Moderate Intellectual Disability Using the Diagnostic Interview Trauma and Stressors–Severe Intellectual Disability

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Introduction Until recently, no diagnostic instrument was available to classify posttraumatic stress disorder (PTSD) in individuals with severe or moderate intellectual disability (SID). This study investigates the Diagnostic Interview Trauma and Stressors–Severe Intellectual Disability (DITS‐SID), a caregiver‐administered interview ...
Annemieke Hoogstad, Samantha Bouwmeester, Liesbeth Mevissen, Robert Didden   +3 more
wiley   +1 more source

Radically truncated MeCP2 rescues Rett syndrome-like neurological defects

Nature, 2017
Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett syndrome. The methyl-CpG-binding protein 2 (MeCP2) protein is an epigenetic reader whose binding to chromatin primarily depends on 5-methylcytosine.
Rebekah Tillotson, Jim Selfridge, Martha V. Koerner, K. K. Gadalla, Jacky Guy, Dina de Sousa, R. Hector, S. Cobb, A. Bird   +8 more
semanticscholar   +1 more source

Impact of rare diseases in oral health [PDF]

, 2016
Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade ...
Castellanos Cosano, Lizett, Machuca Portillo, Guillermo, Molina García, Ana, Posada de la Paz, Manuel   +3 more
core   +2 more sources

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Rate of complications due to neuromuscular scoliosis spine surgery in a 30-years consecutive series [PDF]

, 2017
PURPOSE: The aim of this study was to evaluate the rate of intraoperative and postoperative complications in a large series of patients affected by neuromuscular scoliosis. METHODS: It was a monocentric retrospective study.
CALDERARO, COSMA, Di Sanzo, Vincenzo, FERRETTI, Andrea, LABIANCA, LUCA, Montanaro, Antonello, Turturro, Francesco   +5 more
core   +1 more source