Presentation
In the first of two families studied, 2/6 males with ID present with ASD; in the second family, 1 of 8 with ID present with ASD. [gene.sfari.org]
Presentation on theme: "Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology Gabrielle R. Wilson, Joe C.H. [slideplayer.com]
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]
Curtis Rogers Each chapter contains a differential matrix for each XLID syndrome and extensive illustrations of clinical features Presents clinical and laboratory data on 150 syndromes Defines each syndrome and provides information on somatic features [global.oup.com]
Alt IDs: OMIM:300706, ICD10CM:Q87.8, ORDO:85328 Definition: A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present [informatics.jax.org]
Gastrointestinal
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Failure to Thrive
WILSON DISEASE Is also known as wnd;wd, hepatolenticular degeneration;hepatolenticular degeneration Related symptoms: Autosomal recessive inheritance Intellectual disability Pica Growth delay Failure to thrive SOURCES: ICD10 GARD OMIM MONDO MESH NCIT [mendelian.co]
[…] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]
Neurologic
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Aphasia
He is a world-renowned behavioral neurologist and specialist in cognitive neuroscience, with particular expertise in the aging brain, aphasia, dementia, and neuropsychiatric problems of the elderly. [books.google.it]
[…] relationships Shyness Expressive language delay Inflexible adherence to routines or rituals Lack of spontaneous play Restrictive behavior Impaired use of nonverbal behaviors Increased serum serotonin Hyperventilation Obsessive-compulsive behavior Hyperlordosis Aphasia [mendelian.co]
Hum Genet 97:343-52 (2015) DOI: 10.1016/j.ajhg.2015.07.004 Reference PMID: 28098945 Authors Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS Title Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia [genome.jp]
Posterior cerebral infarcts cause loss of vision in the opposite half of the visual field and sometimes difficulty in the comprehension of speech (called receptive aphasia). [britannica.com]
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Dysarthria
[…] excavatum Talipes equinovarus Prominent forehead Macrotia Postnatal growth retardation Spasticity Attention deficit hyperactivity disorder Synophrys Rare Symptoms - Less than 30% cases Cataract Abnormal hair pattern Patent ductus arteriosus Acidosis Dysarthria [mendelian.co]
SNOMED-CT } Wolf Hirschhorn syndrome (disorder) {718226002, SNOMED-CT } X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) {719139003, SNOMED-CT } X-linked intellectual deficit-dystonia-dysarthria [phinvads.cdc.gov]
With liver failure dementia, confusion, aphasia, dysarthria, tremors of the limbs, and coma may result. Kidney failure is often associated with high blood pressure, which may lead to acute brain edema (distension with fluid), visual loss, and coma. [britannica.com]
Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]
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Personality Change
changes Arthropathy Hypoparathyroidism Global brain atrophy Increased body weight Ventricular tachycardia Hypersexuality Mixed demyelinating and axonal polyneuropathy Confusion Congenital cataract Pigmentary retinopathy Urinary incontinence Hematuria [mendelian.co]
Early symptoms of the disease include personality changes, such as irritability and depression, and an inclination to alcohol abuse. [britannica.com]
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Speech Disorder
Typical symptoms include eye pain and vision disturbances; speech disorders; facial numbness or pain; incoordination of gait and of the limbs; spasticity, weakness, and increased reflexes; frequency and urgency of bladder emptying; and alteration in sensation [britannica.com]
Workup
Before enrollment, the patients had undergone an extensive diagnostic workup, including genomic profiling (performed with the use of the 250K Affymetrix SNP array) and targeted gene tests, with metabolic screening whenever indicated, but these evaluations [nejm.org]
These authors also noted that none of the studies reported on the value of the absence of any neurologic abnormality for a diagnostic workup and concluded that “the value for finding abnormalities or the absence of abnormalities must be higher” than the [pediatrics.aappublications.org]
Treatment
Unfortunately, it also means that even if those treatments are safe and effective, the level of evidence will always be suspect. [raredr.com]
[…] must approach each patient as a unique individual coping with illness and medical treatment. [books.google.it]
Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]
Certain infections in pregnancy Preterm birth Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. [medlineplus.gov]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Prognosis
Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]
Furthermore, knowledge of a causal factor can lead to better counseling, management, and prognosis. It may also provide families with new resources if a causal disease is known. [raredr.com]
“As physicians we have experience with other children who have the same disorder, access to management programs, knowledge of the prognosis, awareness of research on understanding the disease and many other elements that when shared with the parents will [pediatrics.aappublications.org]
Realistic methods of caring for affected children must be established.[9] As soon as ID is confirmed or strongly suspected, the parents should be informed and given ample time to discuss causes, effects, prognosis, education and training of the child, [aegyokawaiisneurodiversityblog.wordpress.com]
This indicates a selection against cells with an active X chromosome with the mutated HDAC8 gene. [1] Treatment and prognosis [ edit ] Common treatment [ edit ] There is no known cure available for Wilson-Turner syndrome. [en.wikipedia.org]
Etiology
Treatment - Wilson-Turner X-linked mental retardation syndrome o If syndrome or no known disease as etiology –Nutritional education and diet manipulation –Exercise regimen (energy expenditure must exceed intake) –Behavior modification involving family [checkorphan.org]
(For AAP guidance related to Autism Spectrum Disorders, see Johnson and Myers. 2 ) For both pediatric primary care providers and families, there are specific benefits to establishing an etiologic diagnosis ( Table 1 ): clarification of etiology; provision [pediatrics.aappublications.org]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Van Karnebeek has been looking for more efficient ways to determine the etiology of intellectual disability for almost 15 years. [raredr.com]
Sim, 30 authors Paul J Lockhart Published in American journal of human genetics 2014 DOI: 10.1016/j.ajhg.2014.10.015 Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in families. [semanticscholar.org]
Epidemiology
[…] of psychiatric symptoms and disorders in the medically ill, including dementia, depression, eating disorders, sexual dysfunction, and substance abuse* Reviews disease- and organ system-specific issues associated with 20 medical specialties, including epidemiology [books.google.it]
Epidemiology Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family. [rarediseases.info.nih.gov]
Epidemiology [ edit ] This disorder affects all demographics equally. The two families that were studied are of European ancestry. [en.wikipedia.org]
The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002 ;8: 117 - 134 2. Ropers HH. Genetics of early onset cognitive impairment. [nejm.org]
Epidemiology The prevalence of MWS is currently unknown, but it seems probable that the syndrome is under-diagnosed, particularly in patients without HSCR [ 4 ]. [ojrd.biomedcentral.com]
Pathophysiology
"Gynaecomastia—pathophysiology, diagnosis and treatment". Nature Reviews Endocrinology. 10 (11): 684–698. doi : 10.1038/nrendo.2014.139. PMID 25112235. Cordova, Adriana; Moschella, Francesco (2008). [en.wikipedia.org]
Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]
Prevention
Prevention - Wilson-Turner X-linked mental retardation syndrome Not supplied. Diagnosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. Prognosis - Wilson-Turner X-linked mental retardation syndrome Not supplied. [checkorphan.org]
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]
Sylvia Stockler and Clara van Karnebeek, the research team developed a means to help doctors identify a small portion of the children who develop intellectual disability for which causal therapy is available - with the potential to prevent brain damage [raredr.com]
Referral to an early intervention program during infancy may prevent or decrease the severity of disability resulting from a perinatal insult. [aegyokawaiisneurodiversityblog.wordpress.com]
In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures potentially occurring in association with the disorder. [rarediseases.org]