Medical Care of Adults with Developmental Disabilities By Susan Schayes M.D Adapted 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 patients  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 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 subset of persons with DD with below average IQ (below ), Self-careSelf-care CommunicationCommunication Home livingHome living Social/Interpersonal SkillsSocial/Interpersonal Skills Use of Community ResourcesUse of Community Resources Self DirectionSelf Direction Academic skillsAcademic skills WorkWork LeisureLeisure HealthHealth SafetySafety

developmental disability Down Syndrome Cerebral Palsy Autism Tubular Sclerosis Cri du Chat 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) Mild (55-70) Moderate (40-55) Moderate (40-55) Severe (25-40) Severe (25-40) Profound (<25) Profound (<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  Vigilance  Bite off what you can chew at a visit so that you do not get overwhelmed. Many of them 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 their lives- with no meaning  PCP may be the person that knows them the longest Developmental Disability Principles

Down’s Syndrome  Trisomy 21 Brachydactyly, broad hands Brachydactyly, broad hands Duodenal atresia, epicanthal folds, 5 th finger clinodactyly Duodenal atresia, epicanthal folds, 5 th finger clinodactyly Flat bridge nose, Flat bridge nose, Hypotonia, lax ligaments Hypotonia, lax ligaments Mental retardation Mental retardation Open mouth, short stature Open mouth, short stature Wide 1-2 toe gap Wide 1-2 toe gap

Down’s Syndrome  Trisomy 21  Life expectancy 25 years in 1983 to 49 years in to 49 years in  Prevalence has decreased from 1/700 to 1/1000 births due from 1/700 to 1/1000 births due to terminations. to terminations. Social and societal issues Social and societal issues

Screening in Down Syndrome  Thyroid function  Atlanto-axial instability  Cardiac (adult) mitral valve prolapse- 46% mitral valve prolapse- 46% aortic regurgitation- 17% aortic regurgitation- 17%  Hearing/vision problems  Dementia/Depression  Sleep Apnea

Sleep Apnea  Sleep apnea is a respiratory disorder that is expressed as multiple cessations of breathing through sleep that may be due to either an occlusion of the airway (obstructive sleep apnea) an occlusion of the airway (obstructive sleep apnea) absence of respiratory effort (central sleep apnea) absence of respiratory effort (central sleep apnea) or a combination of both or a combination of both Screen with Epworth Scale Screen with Epworth Scale

Sleep Apnea Screen with Epworth Sleepiness Scale Screen with Epworth Sleepiness Scale 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 alcohol  In a car, while stopped for a few minutes in traffic

Clinical Presentation of Obstructive Sleep Apnea Developmental and behavioral problems Excessive daytime somnolence Excessive daytime somnolence Behavioral disturbances Behavioral disturbances Developmental delay Developmental delay Failure to thrive Failure to thrive Abnormal sleep patterns Noisy snoring Noisy snoring Nocturnal insomnia Nocturnal insomnia Gasping respirations Gasping respirations Pauses Pauses Retraction Retraction Cyanosis Cyanosis Restless sleep Restless sleep Enuresis Enuresis Worsening of nocturnal seizures Worsening of nocturnal seizures Unusual postures Unusual postures  Long term sequela Pulmonary hypertension Right ventricular hypertrophy (cor pulmonale) Right sided heart failure Systemic hypertension Arrhythmias Hypoxic encephalopathy, including cortical blindness polycythemia

Assessment and Management in Down’s 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 year 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 features 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 in the general population the general population

Popquiz My typical patient  39 year old mild mental retarded male, wheelchair confined since childhood with spastic quadraplegia  What is the diagnosis?

Cerebral Palsy  An umbrellla term - a group of non-progressive, non-contagious conditions that cause physical disability in human development - a group of non-progressive, non-contagious conditions that cause physical disability in human development  75% inutero, 5% childbirth, 15% after birth  Motor disturbances of CP often accompany disturbances of sensation, perception, cognition, communication, behavior, and secondary MSK

Popquiz My typical patient  22 year old special needs patient, repetes same 1-2 words, and same movements over and over, little interest in his family and fixed on blocks of wood  What is the diagnosis?

Autism spectrum disorder  An umbrella term - a spectrum of complex developmental disability that typically appears during the first 3 years of life, and affects a persons ability to communicate and interact - a spectrum of complex developmental disability that typically appears during the first 3 years of life, and affects a persons ability to communicate and interact -lack of or delay in language -repetitive language/motor -little eye contact -lack of fun/play/make belief -fixation on things/objects

Popquiz The zebras  18 year old patient, elfin face, flat nose, broad forehead, median eye brow flare, flat nasal bridge, short nose, long  philtrum, full lips, wide mouth  What is the diagnosis?

Williams Syndrome  Elfin facies  Supravalvular aortic stenosis  Variable mental retardation  Associated with renal disease hypercalcuria, hypercalcuria,

Popquiz The zebras  18 year old patient, mild mental retardation, obesity, obsession with food and eating  What is the diagnosis?

Pradar Willi  Mild mental retardation  Obsessed with food  Evidencce of hypothalmamic and pituitary dysfunction  Clinically central obesity, hypogonadism, and osteoporosis  Absence of expression of paternal active genes on long arm of chromosome 15

The Office Visit Prescription for success  Patient should be accompanied by a familiar person- some one that knows them  Continuity of care  Keep complete record of all interventions  Coordination of interdisciplinary health care

For a successful visit:   Gradually desensitize the patient to office and staff – yes some of my patients bite and kick   Minimize environmental noise   Tell the patient what you are doing   Include the patient in the decision-making process as much as possible.   Plan ahead for potentially challenging behaviours.

Prevention and Screening  Exercise  Healthy lifestyle choices  Immunization  Vision and hearing  Abuse and neglect  Injury prevention and safety  Cancer screening (colon, breast, cervical, testicular, prostate, skin)  Depression  Substance abuse  Osteoporosis

Abuse and Neglect  Physical  Sexual  Emotional  Financial  Neglect  Screen regularly and report to the appropriate authorities

Common Health Issues  Oral Hygiene  Skin Care Skin breakdown Skin breakdown Tracheotomy and PEG sites Tracheotomy and PEG sites  Respiratory OSA OSA Aspiration Pneumonia Aspiration Pneumonia  Cardiovascular Screen earlier and more often than general population Screen earlier and more often than general population

Common Health Issues  GI and Feeding Disorders Dysphagia Dysphagia AspirationAspiration MalnutritionMalnutrition DehydrationDehydration GERD GERD H. pylori H. pylori Constipation and fecal impaction Constipation and fecal impaction

Common Health Issues  Sexual health Dysmenorrhea Dysmenorrhea At risk behaviour At risk behaviour STD’s STD’s Contraception Contraception Menstrual regulation Menstrual regulation Paps Paps

Common Health Issues  Neurologic Seizures/epilepsy Seizures/epilepsy Atypical perception of pain Atypical perception of pain  MSK Scoliosis Scoliosis Contractures Contractures Spasticity Spasticity Osteoporosis Osteoporosis

Polypharmacy  The same health care provider should review all medications every 3 months  Indications, dosage, efficacy, compliance, and side effects  Serum drug levels  Re-evaluate long term use of psychotropic drugs

Behavioural and Psychiatric Issues Changes in behaviour may be the first indication of any problem

Psychiatric Issues  Under-diagnosed in this population  Deficits in verbal expression  Self-talk may be mistaken for thought disorders  Check for anger and depression  Education, skill development, environment modification  Involve psychology, psychiatry and speech-language pathology

Psychiatric Issues  Dementia Changes in emotion, motivation and social behaviour Changes in emotion, motivation and social behaviour Neuropsychologic testing recommended at age 40 Neuropsychologic testing recommended at age 40

Informed Consent  Assess capacity to consent to health care decisions  Adapt communication to patient’s level of function  Involve family and social support network  If not possible, legal guardian/ power of attorney to make decisions based on patient’s best interests and wishes

End of Life Issues  Advance planning for loss of capacity to consent and health crises  Discuss decisions about life sustaining measures  Work with family members or others who have power of attorney