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Recognizing Co-OccurringConditions in People withIntellectual andDevelopmental DisabilityMaria Kansas Devine MDChief Medical OfficerCenter for Disability ServicesAlbany NY

Course Goals:1. Identify atypical presentations of medical illnessin persons with Developmental Disability2. Evaluate medical conditions from the perspectiveof common developmental syndromes3. Increase awareness of medication side effects andinteraction in the presentation of medical illness.

Thinking Inside and Outside the Box Individual Age, Sex, Race Common things are common–Symptoms–Diseases Syndrome Related-Atypical presentations Medication Implications

HistoryGet it where you can! The Patient Parents Residential staff– Nonmedical direct care profressionals– Nursing– Day progam staff– Therapists- OT,PT and Speech– Behaviorists– Other Medical Providers– Collaboration is KEY

Amy W.Amy is a 32 year old female with the diagnosis of Autism.She lives at home with her parents and has a communityworker who takes her out several times per week. Sheusually enjoys this but has been more reluctant to go outfor the last few weeks.She is minimally verbal and repeats a few words over andover. She has recently been noted to have increasedrocking and hand biting. Her appetite has been good butshe has a limited repertoire of foods she will eat. She has ahistory of seasonal allergy. She has a history of anxiety andaggression which has been treated successfully with Zoloftand Zyprexa. Several family members have colds.

Individual Syndrome level Medication perspective

Individual24 year old female with:Anxiety–Is it menstrual related?–Are there changes in her life, stressors?–Any concerns for abuse?Seasonal allergy or cold?

Individual Syndrome level Medication perspective

Autism andAutismSpectrumDisordersCommon Neurodevelopmental disordercharacterized by– Impairment of social interactions andcommunication– Restricted, repetitive and stereotyped behaviorsand interests– Mulitfactorial inheritance but is consideredheritable– Occurs in about 1 in 150 children– Approximately 50% of patient with ASD haveintellectual disability– Often concurrent with other genetic disorderssuch as Down syndrome, Fragile X syndrome,Prader-Willi Syndrome and others.– Associated with other medical disordersincluding Seizure Disorder AD/HD Sleep Disorders GI dysmotility Frequent ear infections

Autism andAutismSpectrumDisordersCommon Neurodevelopmental disordercharacterized by– Impairment of social interactions andcommunication– Restricted, repetitive and stereotypedbehaviors and interests– Multi-factorial inheritance but isconsidered heritable– Occurs in about 1 in 150 children– Approximately 50% of patient with ASDhave intellectual disability– Often concurrent with other geneticdisorders such as Down syndrome,Fragile X syndrome, Prader-WilliSyndrome and others.

Autism andAutismSpectrumDisordersAssociated Medical Disorders: Seizure Disorder GI Dysmotility Anxiety AD/HD Intellectual Disability Sleep Disorders Frequent Ear infections

Behavioral Manifestations of Illness in Autism andID Fist Jamming in the MouthGERD, Dental Pain, Asthma, Nausea,Anxiety, Hand Pain Biting Side of HandSinus Problems, Eustachian TubeDysfunction, Dental problems, Hand pain Intense RockingVisceral Pain, headache, Depression,Anxiety, Medication Side Effects Head BangingHeadache, Seizure, Dental Pain, Sinusproblems, Tinea Capitis, Depression Waving of fingers in Front of EyesMigraine, Vision problem, Seizures

Individual Syndrome level Medication perspective

Syndrome perspective Dental Ear Pain Sinus Pain Hand Pain Abdominal Pain Anxiety/Depression Allergy

Individual Syndrome level Medication perspective

Atypical AntiPsychotics Possible Side effects– Weight gain– Diabetes– Hyperlipidemia– Prolonged QTc interval– Cataracts– Elevated Prolactin- menstrual disorders– Tardive Dyskinesia– Extrapyramidal Side effects Parkinsonianism Akathisia- a state of agitation distressand restlessness

Case of Alan 48 year old male with, learning disability, history of alcoholism in remission, andcerebral palsy with spastic diplegia. He is employed part time in a shelteredworkshop. He uses public transportation and lives alone. He complains of leftsided abdominal pain, on and off, sometimes quite severe. It is partiallyrelieved by voiding or defecating. He denies fever. He has a long history ofconstipation which is generally managed with diet. He reports he has not been asgood at drinking water lately because of his fear of incontinence on the bus. Hereports he has not had a drink in over one year and attends AA as regularly as hecan, depending on transportation. He used to smoke but does not any longer.He recently saw his physiatrist for his spasticity who increased his baclofen dose. Family History Medications:– Baclofen– Miralax– Gabapentin

Individual Syndrome level Medication perspective

Individual Perspective45 year old male with history of alcohol abuse withabdominal pain:–Pancreatitis

Individual Syndrome level Medication perspective

Cerebral Palsy Is the most common childhood physical disability, Affects 2.5 children per 1000 born in the US STATIC neurological condition resulting from brain injury that occurs beforecomplete cerebral development ( age 2).– NON-progressive , so changing in underlying neurological deficit should prompttesting for genetic, metabolic, muscular or tumor related disorders 70-80% thought to be acquired pre-natally Approximately 6% are thought to be related to birth complications Remaining occur after birth from encephalitis and meningitis,hyperbilirubinemia, intracranial trauma from MVAs, falls or child abuse

May or may not include intellectual disabilityCerebral Palsy– Approximately 2/3 have some degree of ID Characterized by abnormal muscle tone andposture Muscular hypertonicity Increased deep tendon reflexes Tremor Weakness Athetoid or Dyskinetic type occurs in 10-20% NON-progressive

Seizure Disorder GI Dysmotility– Oral Incoordination- speech impariment– DysphagiaCerebral PalsyAssociatedConditions Oral dysmotility Excessive drooling Aspiration– GERD– Chronic constipation Urological Disorders– Urinary Retention– Kidney stones Visual and Hearing Impairment Autism AD/HD Disuse Osteoporosis Respiratory Issues– Recurrent Aspiration– Asthma– Scoliosis with structural impingement Hypertension

Syndrome Perspective Constipation flare Kidney Stones Rib Fracture Urinary Retention

Medication PerspectiveBaclofen Urinary retention Urinary frequency Constipation Dry mouthGabapentin Constipation Depression

The Case of PatrickPatrick is a 45 year old with Down Syndrome, andseizure disorder who presents with his residentialstaff who report gradual decline in function overthe last year. He appears less interested in activitiesat home and at day program. Patrick wasambulatory but he fell last time he walked and hassince refused. He has gained weight and has a goodappetite. He frequently falls asleep during the daywhich he is spending mostly in his wheelchair. Hewas previously ambulatory.

Medication List Vimpat Clonazepam Depakote MiralaxFH: Father had diabetes, recently passed away from MI,SH: He has lived in residential housing for 5 years, Dad visitedregularly and was very involved.

What are we thinking? What might we ask? What might we pay special attention toon exam? What diagnostic tests might weperform?

Individual Syndrome level Medication perspective

45 year old man with recent loss with socialwithdrawal and decrease in function:

Individual Syndrome level Medication perspective

Down Syndrome Down Syndrome is the mostcommon genetic cause ofIntellectual Disability whichcan range from very mild toprofound. Most commonly caused byTrisomy 21, an extra 21stchromosome

Down SyndromeDown syndrome predisposes an individual tomultiple medical conditions involving nearlyevery organ system– Early Onset Dementia– Visual Impairment– Hearing loss– Hypothyroidism– Diabetes– Hematologic abnormalities– Atlantoaxial instability– Congenital heart disease– GI motility disorders– GERD– Sleep Apnea

Syndromic Perspective broadens the differential–Early Onset Dementia–Visual ic abnormalities–Atlantoaxial instability–Congenital heart disease–Sleep Apnea

What are we thinking? What might we ask? What might we pay special attention toon exam? What diagnostic tests might weperform?

Individual Syndrome level Medication perspective

Medication PerspectiveVimpatDepakote

Medication PerspectiveVimpatDepakote Blurred vision Pancreatitis Sleepiness Hyponatremia Vertigo Ataxia Bone marrow suppression Hyperammonemia Psychosis Depression Parkinsonism Impaired memory Dizziness Bone marrow suppression Depression Blurred vision Abnormal Gait

What Next?

Lessons LearnedProviders– Common things are still common– Common things can happen at a younger age– Get history anywhere you can– Think about the person as an individual, and as a person with asyndrome– Talk to your specialists!– Don’t forget about medications and their side effects Keep list updated Consider reduction of unused medication Not everything needs a prescription

Patients, Parents and Support Staff– Plan your visit, Don’t bury the lead– Bring or send history, We depend on you!– Think about details when did it start, when does it occur, how does it impact behavior, what is baseline, what changes in medication, lifestyle or stressors hashappened.– Bring an accurate medication list– Careful about what you ask for- all medications havepotential side effects

Resources Psychiatry of Intellectual Disability, A Practical Manual, Julie Gentile andPaulette Marie Gillig Genetics Home Reference https//ghr.nim.nih.gov Down Syndrome Dementia Questionnaire kcdsg.org Cerebral Palsy: An Overview, Karen Krigger MD, Am Fam Physician, 2006Jan1;73 (1) 91-100 www.aacpdm.org

Thank you!