Results 161 to 170 of about 508,553 (288)

Life Story Work as an inclusive methodology to explore identity in intellectual disability. [PDF]

Front Psychiatry
Arellano A, Carrica-Ochoa S, Lizasoain O.   +2 more
europepmc   +1 more source

Substance use interventions for people with intellectual disability transitioning out of prison

Australian and New Zealand Journal of Public Health, 2015
Kate van Dooren, Jesse Young, Carmel Blackburn, Fernanda Maria Claudio   +3 more
doaj   +1 more source

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report. [PDF]

J Med Case Rep
Semyachkina AN, Nikolaeva EA, Gritsevskaya DI, Voinova VY, Kuramagomedova RG, Bochenkov SV, Groznova OS, Parfenenko MA, Kalashnikova OV, Isupova EA.   +9 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy. [PDF]

JAMA Pediatr
Shaw KA, McArthur D, Bilder DA, Hughes MM, Rose CE, Bakian AV, Durkin MS, Fitzgerald RT, Howerton EM, Ladd-Acosta C, Lopez M, Pas ET, Zahorodny W, DiRienzo M, Patrick ME, Warren Z, Washington A, Hudson A, Pettygrove S, Shenouda J, Maenner MJ.   +20 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The overlooked dimension of trauma: recognizing insidious trauma in intellectual disability. [PDF]

Front Psychiatry
Gur A.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Comorbidities in People With Intellectual Disability With and Without Schizophrenia and Schizophrenia Without Intellectual Disability: A Swedish Register Study (IDcare). [PDF]

J Intellect Disabil Res
Bakken TL, Axmon A, Sandberg M.
europepmc   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source