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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

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Medical Care of Adults with Developmental Disabilities

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Medical care of adults with developmental disabilities l.jpg

Medical Care of Adults with Developmental Disabilities

By Susan Schayes M.D

Adapted from Laura Kluver


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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


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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


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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 65-75 ),

  • Self-care

  • Communication

  • Home living

  • Social/Interpersonal Skills

  • Use of Community Resources

  • Self Direction

  • Academic skills

  • Work

  • Leisure

  • Health

  • Safety


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Tubular Sclerosis

Neurofibromatosis

Fragile X

Williams Syndrome

Angelman

developmental disability

Prader Willi

Cri du Chat

Down Syndrome

Phenylketonuria

Cerebral Palsy

Fetal Alcohol Syndrome

Autism


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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 (<25)


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Developmental Disability

  • Heterogeneous population

  • High prevalence of comorbid physical and mental conditions

  • Greater need for health resources than the general public


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Developmental DisabilityPrinciples

  • 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


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Developmental DisabilityPrinciples

  • 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


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Down’s Syndrome

  • Trisomy 21

    • Brachydactyly, 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


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Down’s Syndrome

  • Trisomy 21

    • Life expectancy 25 years in

      1983 to 49 years in 1997.

    • Prevalence has decreased

      from 1/700 to 1/1000 births due

      to terminations.

      Social and societal issues


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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


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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)

    • absence of respiratory effort (central sleep apnea)

    • or a combination of both

    • Screen with Epworth Scale


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Sleep Apnea

  • 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


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Developmental and behavioral problems

Excessive daytime somnolence

Behavioral disturbances

Developmental delay

Failure to thrive

Abnormal sleep patterns

Noisy snoring

Nocturnal insomnia

Gasping respirations

Pauses

Retraction

Cyanosis

Restless sleep

Enuresis

Worsening of nocturnal seizures

Unusual postures

Long term sequela

Pulmonary hypertension

Right ventricular hypertrophy (corpulmonale)

Right sided heart failure

Systemic hypertension

Arrhythmias

Hypoxic encephalopathy, including cortical blindness polycythemia

Clinical Presentation of Obstructive Sleep Apnea


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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?


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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?


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Tuberous Sclerosis

  • Autosomal dominant with hamartomas in skin, brain, heart, kidneys.

  • Angiofibromas (adenoma sebaceum) commonly are on the face.

  • Other derm features include hypomelanoticmalcules- ash leaf spots on body, fibromas on the trunk and periungualfibromas


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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?


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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


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Popquiz

My typical patient

  • 39 year old mild mental retarded male, wheelchair confined since childhood with spastic quadraplegia

  • What is the diagnosis?


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Cerebral Palsy

  • An umbrellla term

    - 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


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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?


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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

    -lack of or delay in language

    -repetitive language/motor

    -little eye contact

    -lack of fun/play/make belief

    -fixation on things/objects


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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?


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Williams Syndrome

  • Elfin facies

  • Supravalvular aortic stenosis

  • Variable mental retardation

  • Associated with renal disease

    hypercalcuria,


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Popquiz

The zebras

  • 18 year old patient, mild mental retardation, obesity, obsession with food and eating

  • What is the diagnosis?


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PradarWilli

  • 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


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The Office VisitPrescription 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


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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.


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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


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Abuse and Neglect

  • Physical

  • Sexual

  • Emotional

  • Financial

  • Neglect

  • Screen regularly and report to the appropriate authorities


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Common Health Issues

  • Oral Hygiene

  • Skin Care

    • Skin breakdown

    • Tracheotomy and PEG sites

  • Respiratory

    • OSA

    • Aspiration Pneumonia

  • Cardiovascular

    • Screen earlier and more often than general population


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Common Health Issues

  • GI and Feeding Disorders

    • Dysphagia

      • Aspiration

      • Malnutrition

      • Dehydration

    • GERD

    • H. pylori

    • Constipation and fecal impaction


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Common Health Issues

  • Sexual health

    • Dysmenorrhea

    • At risk behaviour

    • STD’s

    • Contraception

    • Menstrual regulation

    • Paps


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Common Health Issues

  • Neurologic

    • Seizures/epilepsy

    • Atypical perception of pain

  • MSK

    • Scoliosis

    • Contractures

    • Spasticity

    • Osteoporosis


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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


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Behavioural and Psychiatric Issues

Changes in behaviour may be the first indication of any problem


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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


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Psychiatric Issues

  • Dementia

    • Changes in emotion, motivation and social behaviour

    • Neuropsychologic testing recommended at age 40


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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


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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


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