Neurology – Adults with Developmental Disabilities: By Shweta Dhar M.D. скачать в хорошем качестве

Neurology – Adults with Developmental Disabilities: By Shweta Dhar M.D.

medskl.com is a global, free open access medical education (FOAMEd) project covering the fundamentals of clinical medicine with animations, lectures and concise summaries. medskl.com is working with over 170 award-winning medical school professors to provide content in 200+ clinical presentations for use in the classroom and for physician CME. Neurology – Adults with Developmental Disabilities Whiteboard Animation Transcript with Shweta Dhar, MD https://medskl.com/Module/Index/adult... Developmental disability (DD) is defined as impaired intellectual functioning (with an IQ <70) along with a lack of conceptual, social, and practical skills. There are genetic as well as non-genetic causes that lead to DD. Most individuals are diagnosed in childhood particularly when the clinical diagnosis is obvious. When evaluating an adult with DD, first determine the cause. Does the patient already have a known diagnosis made in childhood? Ask the family member or caregiver for more information. Ask about perinatal hypoxemia or complications around delivery, including maternal infections. Review previous medical records, particularly reports of genetic testing. If the patient has never undergone a genetic evaluation, try to establish a clinical diagnosis. Certain features to look for are mongoloid facies (Down syndrome), large ears and large testes (Fragile X), hypotonia and almond shaped eyes (Prader Willi), tubular nose with a nasal voice (Velocardiofacial syndrome). If you are unable to make a clinical diagnosis, refer the patient to a clinical geneticist. Genetic testing such as karyotype, chromosomal microarray and/or Whole exome sequencing will also help you reach a diagnosis. If the patient is a male, send Fragile X testing. Once the diagnosis is confirmed, initiate a management plan. Know that patients with DD may not be able to clearly express their ailments and hence one must be on the lookout for organic causes when the patient starts behaving strangely. Treatment of physical ailments and preventive screening should be undertaken as appropriate. Be aware of an increasing risk of psychiatric disorders in adults with DD and treat as appropriate. Address general issues such as capacity for informed consent, abuse and neglect, and advance care planning. Ensure that you periodically review all medications your patient is taking and evaluate for any adverse effects. With advances in clinical medicine, adults with DD are living longer and hence, it is very important that all physicians are aware of the challenges and requirements when taking care of this vulnerable population.