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Autosomal Dominant Mental Retardation 5

Autosomal Dominant Non-Syndromic Intellectual Disability


Presentation

  • Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals[books.google.com]
  • Organized alphabetically, the book presents brief, bulleted points on disease topics in a consistent 3-column format. All topics are evidence-based and include cited evidence-based references.[books.google.com]
  • This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility.[diapedia.org]
  • Thus, we present a case of CADASIL with psychotic symptoms at a tertiary-care psychiatric hospital.[gpsych.bmj.com]
Pallister-Hall Syndrome
  • Oculocerebral Hypopigmentation Syndrome Type Preus oculocerebrorenal syndrome Oculopalatocerebral Syndrome Oculorenocerebellar Syndrome Ogden syndrome orofaciodigital syndrome Oslam syndrome Otodental Dysplasia Palant Cleft Palate Syndrome Pallister W Syndrome Pallister-Hall[rgd.mcw.edu]
Muscle Hypotonia
  • A condition (OMIM:614562) characterised by severe mental and psychomotor retardation, muscle hypotonia and poor expressive speech.[medical-dictionary.thefreedictionary.com]
  • Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[kundoc.com]
  • hypotonia; Muscle hypertonicity; Spasticity NEUROLOGIC: [Central nervous system]; Psychomotor retardation, severe to profound; Seizures (rare) MISCELLANEOUS: Contiguous gene deletion syndrome MOLECULAR BASIS: Caused by deletion of 6-12Mb on 3pter-p25[findzebra.com]
Head Banging
  • New Features: New topics for this edition include: Amenorrhea, Asberger Syndrome, Dental Trauma, Head banging, Mental Retardation, Narcolepsy, Obsessive Compulsive Disorder, Separation Anxiety and Social Anxiety Free 30 Day Access to the 5minuteconsult[books.google.com]

Workup

  • Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping[books.google.com]
  • […] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup[eyewiki.aao.org]
  • It thereby offers an effective option for extensive genetic testing early in the diagnostic workup for children with developmental disorders.[journals.plos.org]

Treatment

  • Other features include a Chief Complaints section addressing the workup and treatment of 50 signs and symptoms, plus a medication index, syndromes glossary, surgical glossary, laboratory values, and tables all for quick reference saving you time and helping[books.google.com]
  • The 5-Minute Clinical Consult is a comprehensive, structured clinical resource that presents in bulleted fashion essential information about the diagnosis, treatment, medications, follow-up, and associated conditions of more than 600 medical conditions[books.google.com]
  • Treatment Treatment Options: Visually significant cataracts may be removed.[disorders.eyes.arizona.edu]
  • Other: Standard Standard Other Name: Treatment of hypertension, cyst infections and flank pain Active Comparator: 2 Sirolimus plus Standard Treatment Drug: Sirolimus Standard plus Sirolimus Other Name: Rapamune (R) Primary Outcome Measures : renal volume[clinicaltrials.gov]
  • Identification and treatment of this disorder can be extremely rewarding because patients often benefit greatly with directed treatment of the associated dopamine deficiency state.[massgeneral.org]

Prognosis

  • Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Mortality and morbidity depend on the presence and severity of congenital anomalies. Patients have been reported to live into early adulthood but require assistance with the activities of daily living.[orpha.net]
  • Course and prognosis The clinical course of the syndrome is characterized by persistent or recurrent episodes of cholestasis triggered by common respiratory infections, especially during the first years of life.[nlc-bnc.ca]
  • The development in the child after surgery appeared to be normal, indicating that all children with the cloverleaf skull abnormality do not have a dire prognosis.[genome.jp]
  • Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency.[eyewiki.aao.org]

Etiology

  • Etiology The perspective of disease etiology can provide beneficial and critical clinical data for diagnostic, prognostic, concept, and convert to treatment.[genecelltissue.com]
  • The secondary etiology is due to underlying diseases, with no mental deficiency.[scielo.org.co]
  • The consequences often are moderate to profound MR of unknown etiology.[scielo.br]
  • Etiology AOD is caused by truncating mutations in the NOTCH2 gene (1p13-p11). All mutations lie within the last coding exon of NOTCH2 resulting in a gain of function due to the loss of the protein-destabilizing PEST domain.[orpha.net]
  • Etiology A number of environmental, genetic or multiple factors can cause mental retardation.[aafp.org]

Epidemiology

  • However little data exists about the epidemiological relevance of familial MR.[scielo.br]
  • Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum.[orpha.net]
  • Summary Epidemiology Prevalence is estimated at 1/50,000 to 1/70,000 live births. Over 200 patients have been reported so far. It seems probable that MWS is underdiagnosed, particularly in patients without HSCR.[orpha.net]
  • Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351.[karger.com]
  • Genetic epidemiology Genetic epidemiology is the branch of medicine that investigates the incidence and prevalence of genetic disorders in specific populations.[minddisorders.com]
Sex distribution
Age distribution

Pathophysiology

  • X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology[books.google.com]
  • Neurotic symptoms are reported to be mainly associated with this syndrome. 3 The exact pathophysiological mechanism underlying the association of psychotic symptoms with CADASIL syndrome is not clearly understood.[gpsych.bmj.com]
  • ., Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis, Biol Chem., 2009, 390, 591-599. PubMed Google Scholar [58] Rafiq M. A., Kuss A.[degruyter.com]
  • Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14 (6):701-13. doi: 10.1038/sj.ejhg.5201595. [PubMed: 16721406 ]. 52 Humeau Y, Gambino F, Chelly J, Vitale N.[genecelltissue.com]

Prevention

  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • […] contractures Orthopedic appliances and surgical procedures to improve mobility Special education to help with motor problems and intellectual involvement Prevention is great challenge Prevention of kernicterus by phototherapy has helped Providing low-birth[en.wikibooks.org]
  • It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation.[iofbonehealth.org]
  • Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions.[emedicine.medscape.com]

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