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Developmental Disorders and Psychiatry

Mental Retardation: DSM-IV TR Criteria. Significantly below average intellectual functioning, I.Q. ~ 70 or lower.Deficits/ impairment in adaptive functioning (2 or more areas) -> communication, self-care, social skills, home-living, self- direction, functional academic skills, work, leisure, health and safety, use of community resources.Onset Before age 18.

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Developmental Disorders and Psychiatry

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    1. Developmental Disorders and Psychiatry William E. Green III MD

    2. Mental Retardation: DSM-IV TR Criteria Significantly below average intellectual functioning, I.Q. ~ 70 or lower. Deficits/ impairment in adaptive functioning (2 or more areas) -> communication, self-care, social skills, home-living, self- direction, functional academic skills, work, leisure, health and safety, use of community resources. Onset Before age 18

    3. Diagnostic Criteria Common misconception- IQ “defines” mental retardation. You need impairment in AT LEAST 2 areas on adaptive tests. Otherwise 3-5% of population would be “MR/ DD” if based on IQ alone. Estimates: 1-2 % population w/ all criteria. Note- “behavioral/ psychiatric problems” are NOT PART OF CRITERIA !!!

    4. Classification of MR/ DD

    5. Degree of DD/MR Mild- IQ 50-55 up to approx. 70, represents 85% of total Moderate- IQ 35-40 up to 50-55, about 10% total MR population Academic skills up to about 6th grade, adult may get independent living skills up to minimal supports Usually 1st -2nd grade or below academic skills, may achieve some independence, but usually needs significant supports

    6. Degree of MR (cont.) Severe- IQ 30-35 down to 20-25, about 3-4% of MR population Profound MR- IQ below 20-25 range, 1-2% of MR/DD population Usually limited communication, self care under close supervision, with training may achieve some vocational skills Minimal self care, poor communication, needs constant supervision

    7. Degree of MR- cont. Unspecified- presumption of MR but unable to test accurately. (rarely used)

    8. Degree of Impairment Verbal IQ- gives better idea of “potential”, primarily in academic functioning, more indicative language & communication skills- usually more what you “see” when interviewing individual. Performance IQ- more indicative of non- verbal skills, harder to assess clinically. Adaptive functioning/ level- more indicative of level of function in community (at least my experience)!!! Beware of verbal & performance “split”- ex. Autism, some localized head injury/ trauma survivors Don’t get “hung up” on IQ number! Adaptive functioning MUCH more important (in my opinion!)

    9. Degree of Impairment- cont. More severe the intellectual deficit- more likely to have co-existing physical deficits, hearing or visual impairments, medical problems, etc. Ex. Seizures- mild MR -> 15%, severe MR-> over 33% Mortality Rates in any given year- Mild- Mod.- 2 X normal, Severe- 7 X normal rates, Profound- 31 X normal rates!

    10. Etiology Genetic/ Heredity Teratogens/ Intrauterine infections, Intoxicants (alcohol, drugs, TORCH viruses, etc.) Gestational Abnormalities Malformation syndromes Perinatal Trauma Acquired Diseases (infections, trauma, asphyxia, child abuse, etc.) Environmental/ social (poverty/ neglect), nutritional deficiencies, parental illnesses

    11. Epidemiology Prevalence based on IQ alone- ~3-5% When use all 3 criteria- 1-2% Increasing identification of “syndromes” and possible “causes” with time ID of cause often helps guide psychiatric treatment- “Behavioral Phenotype” Theoretically -> mild MR could gain enough adaptive skills to no longer fit criteria as adults, hence good special education is CRUCIAL

    12. Epidemiology Boys > Girls Urban/ Rural > Suburban Studies- 1-3% incidence Medical Issues- Seizures- 15% in Mild- Moderate Group, 33% In Severe & Profound. Cerebral Palsy/ Motor Impaired- 30-60%. Hearing/ Visual Impairments common- at least 10%

    13. Difficulties with Evaluation DSM-IV TR criteria- subjective feelings, depends primarily on verbal report Behavioral “Overshadowing”- seen as “normal behavior” in MR/ DD persons. Dogma- especially in psychiatrists, we get VERY little training in MR/DD. Lack of cross training, experience across disciplines

    14. Difficulties with Evaluation- cont. “Applied Behavior Analysis”- evaluation-> causes, focus on “modifying behavior”, if depressed or psychotic, may not see the “psychiatric illness”? Dichotomy- either “psychiatric” or “behavioral” in treatment. Medication “Masking”- depression treated with antipsychotic instead of antidepressant- antipsychotic improves sleep/ weight loss, but is it best treatment option?

    15. Psychiatric View Vs. Behavioral/ Special Ed. View Psychiatric/ medical model- is there a “disease”??? DSM IV-TR Biopsychosocial- but with heavy “BIO” emphasis Minimizes environmental/ social elements Medication is “necessary and good” Behavioral/ Special Ed. Behavior serves a “purpose” Emphasis on positive reinforcement Remove negative reinforcers/ rewards Ignores genetic predisposition, Neurological injury Medication is “failure of less restrictive options”

    16. Assessment History- time/ duration, frequency, intensity, associated observations Behaviors- precipitants, associated factors, relieving factors, situation, any “inadvertent rewards”? (Applied Behavior Analysis) Past treatments, medications and responses? Family history- both psychiatric/ DD (In my experience VERY important) Genetics evaluation? Hypothesis? Track data that correlates disorder

    17. Assessment- tips Suggestible/ concrete, watch wording of questions, avoid leading questions Will often choose the last “option” in list if given a list of answers Hallucinations may be reported, Be Careful!!! “Normal” for children at or below developmental age 6-7 to talk to themselves, have “imaginary friends” Evaluation in their “home” environment (workshop, group home, etc.) may show things you don’t see in office?

    18. Assessment- cont. Patient/ client interview, (without family or staff?) Caregiver/ family interview/ reports from teachers, workshops, etc. Watch for informant “bias”! Data can help with this. Vegetative symptoms may be “clue”- changes in sleep, appetite, likes/ interests, energy, etc.

    19. Presentation- Externalizing Behaviors Presentation- “Externalizing Behaviors”- aggression, property destruction, self injurious behavior (SIB), Hyperactivity/ impulsiveness, “inappropriate” behaviors (spitting, yelling, fecal smearing, sexually inappropriate behaviors, etc.) All of above are the “Typical” Referrals Compliant “depressed” patient- not seen until severe weight loss, etc. “Medication Evaluation”-???

    20. Why Make A Big Deal About Recognizing Psychiatric Disorders???

    21. Implications of Psychiatric Disorders Most common reason for failure in community setting!!! High rates institutionalization High rates hospitalization/ repeat admits Patient & staff injuries/ accidents Pain & suffering of untreated mental illness

    22. How Common are Psychiatric Disorders in MR/ DD???

    23. Historical Perspective In the past-> Psychiatric Disorders “rare” in persons with Mental Retardation If diagnosis even made -> psychosis Yet- very high rates medication use! NY state- 45683 patients, only 21 diagnosed w/ affective/ mood disorder (0.046% lifetime) California Sample- 89419 patients, only 599 had affective/ mood disorders- 0.67% lifetime incidence (1993- Rojahn, et al, - Annals Clin. Psych.)

    24. Recent Studies (mid 90’s- Now) Coexisting psychiatric disorders MORE COMMON than general population!!! 27-71% of MR population- (varies depending upon population studied and location) Schizophrenia/ psychotic disorders- over diagnosed (greatly) Mood/ Anxiety Disorders- frequently missed

    25. Psychotic Disorders

    26. Psychotic Disorders Incidence of schizophrenia (as defined in DSM-IV TR) probably NO different than general population (Reiss- 1994) DSM-IV TR criteria “work” for mild- moderate MR, difficult to adapt criteria to severe- profound individuals “Psychotic Disorder NOS” used if does not fit criteria for schizophrenia

    27. Psychotic Disorders- cont. Hallucinations- be careful, “normal” for children under 6 yrs (Dev. Age) to have “imaginary friends”, sometimes talk to themselves, confuse current events w/ past, etc. If adult is at or below developmental age of 6- can say “Yes” to questions about hallucinations Harder to assess “decline” in function

    28. Antipsychotics Newer atypical antipsychotics (Zyprexa, risperdal, seroquel, geodon, abilify, etc.) all very effective- psychosis, bipolar, impulse cont. D/O, others Tardive Dyskinesia- major worry in past. Now, main concern is weight gain, diabetes, lipid problems (metabolic syndrome) Most can transition from Typicals (Mellaril, others) but ~5 -10% cannot- (Galluchi, et al, 1/2003- Mental Health Aspects Dev. Dis.) TD risk- Typicals > atypicals

    29. Psychosis/ Antipsychotics MR/DD individuals at higher risk of EPS, Tardive Dyskinesia (20- 30%), possibly Tardive akithesia, NMS? Refractory cases- good results with Clozaril (clozapine) in refractory psychosis and aggression- (Antonacci, 2000) Velocardiofacial syndrome- (22q11.2 microdeletion), 1:5000, 30% fit criteria schizophrenia as adults, also high rates bipolar spectrum illness ALWAYS do good AIMS or DISCUS prior to antipsychotic!- high rates of baseline tics, movement disorders in this population

    30. Psychosis- cont. Why differentiate between Schizophrenia vs. Psychotic Disorder NOS??? Pary (1994)- AJMR- 84 of 174 pts. on chronic antipsychotics. Dose reduction attempted 68 of 84. Followed for 12 months. History of psychotic sxs.- strong predictor restarting antipsychotics. No history delusions predicted NOT restarting antipsychotics. However -> 1/3 of those with a HISTORY PSYCHOSIS were still completely OFF ANTIPSYCHOTICS at 12 month follow up, w/o evidence psychosis.

    31. Mood Disorders

    32. Mood Disorders- Depression Early studies- “rare” (even in early ‘90’s) Recent Studies-> at least equal, probably higher rates. Focus on “disruptive behaviors”, (aggression, property destruction, SIB, yelling, hyperactivity) Compliant- May not refer until losing weight, quiet, withdrawn, severe SIB, etc.

    33. Mood Disorders- Depression Mild MR- presentation similar to “routine” major depression Severe- profound MR- angry outbursts, refusal to participate, SIB, aggression, etc. The more severe the cognitive disability- the more ATYPICAL the presentation (Stavrakaki, 1999) Atypical symptoms-aggression, irritability, agitation, self injurious behavior (SIB), screaming, etc. Also look for vegetative symptoms (sleep, weight/ appetite, lethargy, disinterest, etc.)

    34. Major Depression- cont. Charlot, et al- irritable mood is the usual finding, 75% aggression, 50% SIB Treatment- antidepressants (SSRI’s, SNRI's, etc.), watch for exacerbation of aggression, worsening of seizures. Consider psychotherapy! Tend to be slower to “generalize” patterns, may need to be more directive, concrete, supportive, and encouraging Down’s Syndrome, Fragile X, Head trauma all have higher rates depression. Check Thyroid Function!

    35. Mood Disorders- Bipolar Limited studies, possibly increased incidence of 3-8%, (“organic” mood disorders?) Atypical/ mixed/ rapid cycling- all more common- (Normal presentation?) Often seen after starting antidepressants Charlot, et al (1993)- over 40% ultimately diagnosed as bipolar had SIB as presenting complaint

    36. Mood Disorders- Bipolar Frequently missed. Anticonvulsants (Depakote, Tegretol/ Carbamazepine), Lithium. Often need higher blood levels valproate (Depakote 100-125 + range) or Tegretol (8-12 range)- (Sovner, et al) Lamictal, Lithium for Bipolar Depression

    37. Bipolar Disorder- cont. Anticonvulsants- Depakote (valproic acid), Tegretol (Carbamazepine), Lamictal (lamotrigine)- all options Lithium, atypicals also (as adjuncts) Sovner (1989)- persons with mixed patterns often need VPA level > 100 mg/l to get full response, (watch platelets, WBC’s, etc.) Watch for valproate/ pancreatitis!- this is one of the populations at higher risk. Combination Valproate & Carbamazepine-> high levels 10,11 Epoxide metabolite of CBMZ- increased toxicity, increased metabolism-> Valproate level drops

    38. Anxiety Disorders

    39. Anxiety Disorders Anxiety is subjective, may not be able to “describe” sensation. Phobias, Panic Disorder, GAD, PTSD, OCD all reported. Rely on behavior, responses, “clues” TIPS- avoidance behavior, agitation/ aggression only in certain situations, autonomic arousal (increased HR, respirations, dilated pupils, etc.)

    40. Anxiety Disorders- cont. PTSD- under recognized, frequently misdiagnosed (ex.-schizophrenia) OCD- common, a clue may be “self restraint”- wanting to be restrained Common- Fragile X, autism, Prader Willi Watch out with benzodiazepines (valium, ativan, xanax, Klonopin, etc.) Disinhibition can occur! Can worsen behavior Medications- SSRI’s, SNRI's, occasionally TCA’s, Buspar

    41. Attention Deficit Hyperactivity Disorder (ADD/ ADHD) 4-18% in various studies Incidence appears at least as high as “normal” population. Combined type- normal presentation Compare to peers at same developmental level, to avoid over diagnosis Psychostimulants- very effective in school age, possibly less so in IQ < 45?

    42. ADHD- cont. Higher risk for paradoxical effects, tics, seizures, social withdrawal, worsening irritability, etc. with stimulants. Central alpha 1 presynaptic agonists (clonidine, guanfacine) also good for impulsivity, hyperactivity Psychostimulants- D- amphetamine, Ritalin, Concerta, Adderall, etc. Rarely- SSRI’s, SNRI’s, TCA’s (older studies) used

    43. Impulse Control Disorders Mood Disorder or Anxiety Disorder? vegetative symptoms? Evidence of Psychosis/ responding to Internal Stimuli? Medications? (benzo.'s, anticholinergics (esp. Down’s)), antipsychotics, stimulants, anticonvulsants may all induce agitation Seizures, Pain, Other Medical Issues? Environmental triggers/ re-enforcer's? Impulse Control Disorder NOS, maybe Intermittent Explosive Disorder if not able to describe more accurately

    44. Personality Disorders All types described in literature Frequently over diagnosed- the “maladaptive” behavior may be “appropriate” response to a dysfunctional environment Personality D/O increases risk for Axis I disorder Many individuals can participate psychotherapy!

    45. Social/ Environmental Issues Facing Persons with Developmental Disabilities

    46. Social/ Environmental Issues Impaired cognition/ flexibility, poor impulse control, poor coping/ social skills Crowding, noise, multiple moves, aggression by others Overly dependent on nuclear family Lack of “social support system”, few friends, overly dependent on a limited number of people

    47. Social/ Environmental Issues Lack of social awareness, poor understanding of boundaries, “safe” touch Families-> children w/ MR-> MUCH higher divorce rates, higher rates of physical/ sexual/ emotional abuse of child w/ DD/ MR Effects of caregiver medical/ mental illness? Death in family-> MAJOR IMPACT! It is stressful/ challenging to care for someone w/ MR/DD!

    48. Social/ Environmental Effects on siblings-ranges from embarrassment/ shame all the way to overprotection. Often “frustrated”/ angry at not being “a normal family” Many parents overprotective, sometimes to the point of “sheltering individual” from life experiences MR/DD individuals at increased risk physical/ sexual/ emotional abuse or exploitation “Check” can be source of funds- will sometimes keep individual at home to ensure check continues

    49. Evaluation- More “Tips” RULE OUT MEDICAL ILLNESS!!! 1997 Study- Ryan and Sunada, Gen Hosp. Psych. (19:274-280) Total of 1135 patients- all had “medical workup” prior to clinic referral. 75% had undiagnosed or inadequately treated medical condition. ~ 25% had COMPLETE REMISSION of psychiatric symptoms with medical treatment!!! Seizures, hypothyroidism (12.7%), GE Reflux/ ulcer, Acute or chronic pain, VP shunt failure, dental abscess, etc., etc.

    50. DDSN Overview Central Office- administration, budgets, legal, contracts, 3 divisions (Autism, HASCI, MR and related disability) Field Offices: Region 1 (upstate/ midlands) & Region 2 (Pee Dee, Lowcountry) Regional Field offices “oversee” operations of Regional Centers, also make sure County Boards are doing “what they say they do”. Central Office has limited “true authority” over County Boards, main control is financial “leverage”, contracts, etc. (less than DMH!)

    51. DDSN State Commission Commissioners from around the state, generally picked by Governor (legislative and political input) Some turnover with change of administrations Meet quarterly in Columbia- overall function of department

    52. Regional Centers Whitten Center- Piedmont/ upstate, largest, located Clinton, SC- average 300+ census Midlands Center- midlands area, off Farrow Rd. past Bryan, 150- 200+ Coastal Center- Ladson SC, Lowcountry region 150-200+ Pee Dee Center- Florence, SC, Pee Dee region, 150-200+ Saleeby Center- Hartsville, SC, 100-150 range, “medically fragile” (tube feedings, ventilator/ respiratory insufficiency, severe chronic medical illnesses (generally less psychiatric issues- 22 total) All above- Intermediate Care Facility for MR (ICFMR)

    53. County Boards Usually 1-2 counties, largest is five, set up for community based services. Public/ Private non- profit, run by County Board of Directors (nominated by state representatives). Contract with DDSN for funding Day Programs, Sheltered workshops, some competitive employment programs. “Service Coordinator”- primary supervisor of services delivered to individuals (clients) “Single Plan”- yearly meeting that develops services/ needs/ supports for individuals. Early Intervention (<3 years), other services at larger boards. Beginning to see other providers come in to state- United Cerebral Palsy, MENTOR, Care Focus, ARC, etc. Ultimately “good”-> increased competition!

    54. Community Residential Settings 1. ICFMR 2. Community Residential Care Facilities (CRCF) 3. Community Training Home I - CTH I (adult foster care) 4. Community Training Home II- CTH II 5. Supervised Living Program II- SLP II 6. Supervised Living Program I- SLP I 7. Home based (living with family) 8. Independent Apartment Setting, supports PRN

    55. Down’s Syndrome Trisomy 21, occasionally others (13) but usually fatal early on. 1:650-1000. Risk increases with maternal age, receptive language > expressive language Generally “placid, good natured”, high rates depressive/ anxiety disorders, early onset Alzheimer's (sometimes age by 40) Hypothyroidism, some hearing loss (60-80%), leukemia- AML (1%), cardiac defects, hip and neck abnormalities, obesity, palmer/ simian crease Some individuals with Down’s- cholinergic dysfunction, sensitive to anticholinergics

    56. Fragile X Syndrome Mainly males, expansion of CGG exon in FMR-1 gene, turns “off” production of subsequent protein by gene Mainly males (1:4000), females can carry premutation but generally much less effect Hyperextensible joints, flat feet, arched palate, long face, prominent jaw/ ears, macroorchidism Mild to severe/ profound MR, anxiety disorders, ADHD (70%), autism (15%), social anxiety, “gaze avoidance”, impulsive, scoliosis, MVP, seizures, dental problems, hypersensitive touch/ noise/ light

    57. Prader Willi Syndrome Chromosome 15 microdeletion (15q11-13) Usually paternal in origin, 1:16-25,000 Short, obese, “floppy” as neonates/ infants, poor feeding as infant, lack of pubertal growth spurt, hypogonadism Compulsive Eating! Most common “syndromal” cause of obesity 50% fit criteria O.C.D., high rates anxiety/ depressive disorders, aggression, skin picking

    58. Angelman Syndrome Angelman Syndrome: chromosomal defect at 15q11-13 region, usually maternal in origin (mutation/ deletion, etc.) “Happy Puppet Syndrome”- ataxia/ jerking/ lurching gait, paroxysms of laughter, limited to no speech, large mandible/ open mouth, seizures common Severe- profound MR, often very hyperactive/ impulsive (ADHD), seizures, occasional spontaneous aggression, autistic features, “mouthing” of objects

    59. Velocardiofacial Syndrome Genetic testing -> microdeletion chromosome 22q11.2. Cleft lip/ palate, long face, retrognathia/ small mouth, Cardiac defects (VSD/ ASD), short, hypotonia. Contiguous gene syndrome, VIQ > PIQ. Often normal to mild MR. Estimates 1:5000 High rates severe psychiatric illness. Bipolar spectrum common- 30+ %, about 30% fit criteria for paranoid schizophrenia as adults. Often VERY refractory to tx., chronic/ disabling course, I would definitely be thinking Clozapine here!

    60. Genetic Disorders- cont. Turner Syndrome (45,XO)- depression/ anxiety as adults, usually mild MR (if any) Smith- Magenis Syndrome– ADHD, characteristic “self hug” when excited, severe SIB, sleep problems, anger outbursts Williams Syndrome- “elfin” face, small chin, HTN, aortic coarctation/ problems, very friendly/ talkative as children, become very anxious/ depressed as adults, obsessive worry about future, mild- mod. MR usually

    61. Psychiatric Treatment Issues Long history SEVERE over- prescribing, inappropriate use medications, lack of monitoring- heavy antipsychotic use DD/MR staff have distrust/ suspicion around psychiatrists (sometimes well deserved!) “Habilitative Model”- based on educational/ training/ behavioral programming. Approach in Developmental Disorders setting “Medical Model”- traditional psychiatric tx.

    62. Psychiatrists as part of Team Multidisciplinary Treatment team Track index behaviors, hypothesis of cause/ disorder Monitor for side effects/ TD/ others. ? Informed consent a big issue? Consideration of annual reduction? Rules set up by HCFA- monitored by several agencies (DHEC, DDSN, etc.)

    63. Treatment- cont. “Consideration” of annual reduction- this is NOT required! Treatment requires “team approval”. Informed consent? Big issue nationally and statewide. Concept of situational competency vs. complete incompetence. Medication should be “appropriate” for diagnosis, “minimal effective dose” used

    64. Medication Issues DD/ MR at higher risk of TD, EPS, akathisia, NMS Higher risk of other side effects- constipation, dry mouth, orthostatic hypotension, etc. Many medications lower seizure threshold More medications = higher potential for drug interactions Many different medical illnesses

    65. Questions??? Stavrakaki (1999)- “The more severe the developmental disability, the more atypical the presentation”

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