Results 91 to 100 of about 43,167 (288)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

Molecular Genetics & Genomic Medicine, 2019
Background Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy.
Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer   +4 more
doaj   +1 more source

What’s in a name? Alternatives to “learning disability”

, 2006
The term learning disability is currently used in the UK to describe people who require a service due to a low intellectual ability. It is argued that the term is demeaning, confusing and, as currently defined, fails to describe the group of people to ...
The Burton Street Group, Sheffield, Whitaker, Simon   +1 more
core   +1 more source

Pisa Syndromes in Patients with Intellectual Disability [PDF]

, 2010
The aim of this report is to describe Pisa syndrome in two adults with intellectual disability. This case report is significant as, to our knowledge, Pisa syndrome has not previously been reported in an individual with intellectual disability (learning ...
Hussain, Ijaz, Ulhaq, Inam, Murthy, Sutha   +2 more
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review

Frontiers in Medicine
BackgroundIntellectual disorder, Type 98 (ID 98) is an X-linked disorder characterized by intellectual disability, epilepsy, and multisystem manifestations.
Yuanhang Zhu, Fangying Cui, Xuezhe Ouyang, Jing Guo, Yaming Liu, Naiqi Li, Qian Yang, Yali Li, Ling Liu   +8 more
doaj   +1 more source

Providing services in the United Kingdom to people with an intellectual disability who present behaviour which challenges: A review of the literature

, 2011
There is ongoing debate about the best model of service provision for people with an intellectual disability who present severe behavioural challenges. The present paper reviewed research which evaluated a range of UK service provision in terms of impact
Karen McKenzie, McKenzie, Karen
core   +1 more source

A revised sexual knowledge assessment tool for people with intellectual disabilities: Is sexual knowledge related to sexual offending behaviour? [PDF]

, 2006
Background: The aim of the current study was to update an existing short measure of sexual knowledge and generate some initial reliability and normative data.
Langdon, Peter E., Talbot, T. J., Talbot, Tiffany J., Langdon, P. E.   +3 more
core   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Exploring the beliefs about sex and relationships held by sex offenders with an intellectual disability

, 2013
This thesis aimed to enrich the existing research literature concerning sex offenders with an intellectual disability and to offer direct implications for the treatment of these individuals within the National Offender Management Service1 (NOMS).
Mayes, D
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