Results 31 to 40 of about 4,477 (107)

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden, F. R. Vereijken, N. Frielink, P. J. C. M. Embregts   +3 more
wiley   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
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Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies

Movement Disorders, Volume 39, Issue 11, Page 2110-2116, November 2024.
Abstract Background Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective The objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk ...
Björn‐Hergen Laabs, Katja Lohmann, Eva‐Juliane Vollstedt, Tobias Reinberger, Lisa‐Marie Nuxoll, Gamze Kilic‐Berkmen, Joel S. Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B. Bressman, Kevin R. Duque, Alberto J. Espay, Andreas Ferbert, Jeanne S. Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A. Kühn, Mark S. LeDoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt‐Buell, Alexander Pantelyat, Sarah E. Pirio Richardson, Deborah Raymond, Stephen G. Reich, Rachel Saunders Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J. Wright, Michael Zech, Kirsten E. Zeuner, Simone Zittel, Meike Kasten, Yan V. Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J. Ozelius, Hyder A. Jinnah, Christine Klein, Inke R. König   +57 more
wiley   +1 more source

The creation of transgenic animal “models” for human genetic disease [PDF]

, 1992
Transgenic animals will be created to study human genetic disease as soon as the technological capability exists to do so. Extant laws permit such animals to be created. The mindset of the research community makes it inevitable.
Rollin, Bernard E.
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A rare case of Lesch-Nyhan syndrome in adulthood [PDF]

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder characterized by hyperuricemia, neurodevelopmental delay, self-mutilation, and gouty arthritis.
Shafique, Hira, Zafar, Sharjeel
core   +2 more sources

A systematic review and meta‐analysis of the effectiveness of interventions targeting the parent–child relationship in families of children with an intellectual disability

Journal of Applied Research in Intellectual Disabilities, Volume 37, Issue 6, November 2024.
Abstract Background The review aimed to investigate the effectiveness of parent–child relationship interventions for families of children with intellectual disability up to 12 years old. Methods Quasi‐experimental or randomised controlled trials (RCTs) of interventions targeting the parent–child relationship where ≥50% of children had an intellectual ...
Freya Westlake, Meryl Westlake, Vaso Totsika   +2 more
wiley   +1 more source

Behavioural phenotype of SYNGAP1‐related intellectual disability

Journal of Intellectual Disability Research, Volume 68, Issue 9, Page 1036-1049, September 2024.
Abstract Background SYNGAP1‐ related intellectual disability (SYNGAP1‐ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur.
M. P. Kranak, G. Rooker, C. Smith‐Hicks   +2 more
wiley   +1 more source

Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey

Journal of Genetic Counseling, Volume 33, Issue 4, Page 822-833, August 2024.
Abstract Diagnostic genetic testing and non‐invasive prenatal testing (NIPT) for conditions associated with disability are becoming increasingly available to consumers. This genetic information can be used in the disability setting to inform factors such as prognosis, management, and reproductive decision‐making.
Tatiane Yanes, Vaishnavi Nathan, Courtney Wallingford, Rhonda Faragher, Karen Nankervis, Chris Jacobs, Maria Vassos, Fran Boyle, Annemaree Carroll, Simon Smith, Aideen McInerney‐Leo   +10 more
wiley   +1 more source

PRTFDC1 Is a Genetic Modifier of HPRT-Deficiency in the Mouse [PDF]

, 2011
Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious ...
Edwards, Gaylen L., Freeman, Kimberly G., Gaval-Cruz, Meriem, Keebaugh, Alaine C., Mitchell, Heather A., Thomas, James W., Weinshenker, David   +6 more
core   +4 more sources

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael, Romance García, Ana, Romero Maroto, Martín, Simón de las Heras, Rogelio   +3 more
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