Developmental Disorders and Psychiatry

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�