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1、Medical Care of Adults with Developmental Disabilities,By Susan Schayes M.DAdapted from Laura Kluver,Objectives,Definition of Developmental Disability and Mental Retardation Review specific Adult Developmental Disabilities seen in the office Review Physical Health Issues for these special needs pati
2、ents Review Behaviour and Mental Health Legal and End Of Life Issues,Developmental Disability,Severe, chronic mental or physical disabilities that manifest before a person reaches 22 years of age, are likely to continue indefinately, and result in substantial functional limitations in three or more
3、of the following areas: Self care, receptive and expressive language, learning, mobility, self-direction, capacity for independent living, or economic self sufficiency,Mental Retardation,present before 18 years of age, two or more deficits in adaptive behavior used for everyday livingIdentifies a su
4、bset of persons with DD with below average IQ (below 65-75 ),Self-care Communication Home living Social/Interpersonal Skills Use of Community Resources Self Direction,Academic skills Work Leisure Health Safety,developmental disability,Down Syndrome,Cerebral Palsy,Autism,Tubular Sclerosis,Cri du Chat
5、,Prader Willi,Angelman,Neurofibromatosis,Fetal Alcohol Syndrome,Fragile X,Phenylketonuria,Williams Syndrome,Developmental Disability,Initially identified when younger than 18 years 1-3% of the population Severity often correlated with IQ scores: Mild (55-70) Moderate (40-55) Severe (25-40) Profound
6、(25),Heterogeneous population High prevalence of comorbid physical and mental conditions Greater need for health resources than the general public,Developmental Disability,Assessment Monitoring Prevention VigilanceBite off what you can chew at a visit so that you do not get overwhelmed. Many of them
7、 will be on Medicaid- incorporate,Developmental Disability Principles,Who is the patient? Caregiver burn out? A long thread of temp care providers in their lives- with no meaning PCP may be the person that knows them the longest,Developmental Disability Principles,Downs Syndrome,Trisomy 21Brachydact
8、yly, broad hands Duodenal atresia, epicanthal folds, 5th finger clinodactyly Flat bridge nose, Hypotonia, lax ligaments Mental retardation Open mouth, short stature Wide 1-2 toe gap,Downs Syndrome,Trisomy 21Life expectancy 25 years in 1983 to 49 years in 1997. Prevalence has decreasedfrom 1/700 to 1
9、/1000 births due to terminations.Social and societal issues,Screening in Down Syndrome,Thyroid function Atlanto-axial instability Cardiac (adult) mitral valve prolapse- 46% aortic regurgitation-17% Hearing/vision problems Dementia/Depression Sleep Apnea,Sleep Apnea,Sleep apnea is a respiratory disor
10、der that is expressed as multiple cessations of breathing through sleep that may be due to either an occlusion of the airway (obstructive sleep apnea) absence of respiratory effort (central sleep apnea) or a combination of both Screen with Epworth Scale,Sleep Apnea,Screen with Epworth Sleepiness Sca
11、le Situation:0-no,1-slight, 2-moderate, 3-high Sitting and reading Watching TV Sitting inactive in a public place As a passenger in a car for an hour without a break Lying down to rest in the afternoon when circumstances permit Sitting and talking to someone Sitting quietly after a lunch without alc
12、ohol In a car, while stopped for a few minutes in traffic,Clinical Presentation of Obstructive Sleep Apnea,Developmental and behavioral problems Excessive daytime somnolence Behavioral disturbances Developmental delay Failure to thriveAbnormal sleep patterns Noisy snoring Nocturnal insomnia Gasping
13、respirations Pauses Retraction Cyanosis Restless sleep Enuresis Worsening of nocturnal seizures Unusual postures,Long term sequela Pulmonary hypertension Right ventricular hypertrophy (cor pulmonale) Right sided heart failure Systemic hypertension Arrhythmias Hypoxic encephalopathy, including cortic
14、al blindness polycythemia,Assessment and Management in Downs Syndrome,Prevent- Obesity, periodontal disease Vigilance for arthritis, TD, DM, seizures, leukemia Other: Sexual and reproductive health Behavioral problems Life skills How are they spending their life?,Popquiz,Photoquiz Jan 2009 AAFP 24 y
15、ear old male with MR and seizures and 10 year history of lesions on his nose, and skin patches on his arms and trunk.What is the diagnosis?,Tuberous Sclerosis,Autosomal dominant with hamartomas in skin, brain, heart, kidneys. Angiofibromas (adenoma sebaceum) commonly are on the face. Other derm feat
16、ures include hypomelanotic malcules- ash leaf spots on body, fibromas on the trunk and periungual fibromas,Popquiz,AAFP July 1, 2005 17 year old moderate mental retardation, long face, protruding ears and a large head, and joint laxity.What is the diagnosis?,Fragile X Syndrome,Leading genetic cause of mental retardation X-linked FMR1 gene on the X chromosome. Affects males/females-milder Genetic testing developed at Emory Prevalence of 1/4000-1/6000 inthe general population,
