Mental health in adults with Down syndrome Anna Esbensen, PhD & George Capone, MD July 24, 2018 Glasgow, Scotland
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1 Mental health in adults with Down syndrome Anna Esbensen, PhD & George Capone, MD July 24, 2018 Glasgow, Scotland
2 Why is mental health important for persons with Down syndrome? How does mental health affect the individual s overall health? Is mental health something for which individuals should be actively screened? What are your recommendations for approach to diagnosis, surveillance and treatment?
3 Why is mental health important for persons with Down syndrome?
4 Estimate of Down Syndrome Population Prevalence in the United States in 2008 The Journal of Pediatrics, (2013) Volume 163, Issue 4, ; A Presson et al. 60y Age at Death 53y 47y The mean and median age at death for persons with Down syndrome have increased significantly over the past 40 years.
5 Risk for dementia increases SCHUPF, N. et al. The British Journal of Psychiatry 2002;180:
6 What criteria we use impacts our numbers Mantry et al., 2008 JIDR
7 Lower rates of mental ill-health compared to ID Mantry et al., 2008 JIDR Standardized rate for prevalence of mental ill-health: 0.6 ( ) 0.4 ( ) if organic disorders excluded Standardized incidence ratio for mental ill-health: 0.9 ( ) 0.7 ( ) if organic disorders excluded
8 Lower rates of mental ill-health compared to ID Lower rates mania (Cooper & Collacott, 1993; Sovner et al., 1985) Lower rates schizophrenia (Collacott et al, 1992; Prasher, 1995) Lower rates of behavior problems (Collacott et al., 1992; Collacott et al, 1998; Lund, 1988; Myers & Pueschel 1991)
9 Depression Mantry et al., 2008 JIDR Depression more common (Collacott et al, 1992; Myers & Pueschel, 1991) Depression less common (Lund 1988; Mantry et al., 2008; Meins, 1993) But were we misdiagnosing depression? Dementia Hypothyroidism (lethargy, decreased interest in activities) Sleep apnea (fatigue, irritability, decreased interest in activities) Celiac B12 deficiency Sensory loss
10 Major Depressive Episode- Adapted for DM-ID (USA) Five (Four) or more of the following symptoms have been present during the same 2 week period and represents a change from previous functioning. At least one of the symptoms is either Depressed mood Loss of interest or pleasure (Irritability) Plus three additional from 8 criteria
11 Major Depressive Episode- Adapted for DC-LD (UK) Four or more of the following symptoms have been present during the same 2 week period and represents a change from previous functioning. At least 1 or 2 of the symptoms is either Depressed mood Loss of interest or pleasure Or social withdrawal, reduction in self-care, reduction in speech Plus three additional of 9 criteria
12 How does mental health affect the individual s overall health?
13 Heterogeneity in aging in Down syndrome 9-year time span (Esbensen et al., 2008) Health declined Improvements in housekeeping skills Declines in personal care and mobility Improvements in behavior problems Lifespan study (Carr, 2008) Health stable, yet worse than control Social relationships limited
14 Health declines with aging in DS Vision problems (strabismus, nystagmus, refractive errors, cataracts, keratoconus) Conductive hearing loss with otitis media Sleep apnea Celiac disease Constipation Boils Fungal infections osteoarthritis Skeletal (atlanto-axial instability) Cancer (testicle & ovary) Leukemia Cervical subluxation Vitamin B12 deficiency Osteoporosis Type 1 & 2 diabetes Obesity Autoimmune disorders Lead to symptoms of depression, anxiety, lethargy, weight loss, food refusal
15 Family impacts development Childhood Parent-child interactions foster development Family cohesion & mother-child relationships fosters growth in communication, ADLs, socialization Adulthood High maternal warmth and low criticism improves behaviors Close sibling relationships improves behaviors and socialization
16 Heterogeneity due to environment Residential placement Impacts: Residential placement & parental death impacts: Health & Functional Abilities Behavior Problems Esbensen et al., 2008, AJIDD
17 Esbensen et al., 2016 AJIDD Dementia more likely to be older, lower functional abilities, worse health and more health conditions, and need more support in self-care Psychopathology more likely to exhibit more behavior problems and more likely to be living at home Comparison more likely to be involved in community employment
18 Rates of MH vary with sleep (Esbensen, 2016)
19 Major Depressive Episode & Down Syndrome Male = Female Grief, bereavement, adjustment reaction - common Grief, bereavement NOT the same as Major Depression MDE peaks at 15-25yr - NOT a linear increase with ageing Prodrome of dementia? Amyloid peptide deposits Monoamine and cholinergic NT failure 8/13/2018
20 Adult Regression - Core Domains NOT the same as MDE Diverse etiologies - MDE, other psychiatric, Catatonia, Sleep apnea, Thyroid, B12 Post-traumatic, Auto-immune encephalopathy? None of the above
21 Down Syndrome Case-Control Study Diagnostic Groups Major Depressive Episode (MDE) Age at evaluation Symptom Duration Previous diagnoses Mentally Healthy DS (Controls) Age at evaluation DS Subjects N=28 Functional decline N=19 N=19 13 (68%) MDE + Psychosis N=9 6 (66%) yr mo OC/Anxiety(8) ADHD(2) None(18) N=9 0% yr
22 Thyroid Function MDE Controls Thyroid Status N=28 N=9 Thyroid supplement 11/28 (39%) 4/9 (44%) Euthyroid (TSH uiu/ml) 27 (96%) 9 (100%) Compensated (TSH > 5.5uIU/ml; normal T4) 1 0 Hypothyroid (low T4) 0 0
23 Sleep Screener: Sleep Disturbance Scale MDE Controls Subscale N=19 N=6 t-test Initiation Maintenance 19.4 ± ± 2.4 <.01 Breathing 6.4 ± ± 0.5 <.05 Arousal 3.3 ± ± 0 NS Transition 10.0 ± ± 2.4 NS Somnolence 12.1 ± ± 2.4 NS Hyperhydrosis 2.7 ± ± 0 NS SDS Total Score 53.9 ± ± 3.6 <.01
24 Respiratory Events & Oxygenation Data MDE Controls Respiratory Events N=28 N=9 t-test Apnea/Hypopnea Index (n/hr) 18.8 ± ± REM-Apnea/Hypopnea Index (n/hr) Respiratory Disturbance Index (n/hr) 35.8 ± ± ± ± 7.3 <.01 Central Apneas (n/tst) 4.9 ± ± 4.0 NS Oxygenation Mean Sa02 during sleep (%) 95.1 ± ± 2.7 NS Sa02 nadir during sleep (%) 83.7 ± ± 6.7 <.01 Sa02 < 90% (TST%) outlier ] [minus 3.7 ± ± 11.6 [0.0] NS [001]
25 Sleep Arousal Data MDE Controls Arousals N= 28 N=9 t-test Respiratory Arousal Index Limb Movement Arousal Index Spontaneous Arousal Index 14.9 ± ± 3.1 < ± ± ± ± 13.4 NS Total Arousal Index 22.4 ± ± 15.7 NS Awakening Index 3.8 ± ± 2.6 NS
26 Sleep Stage Data MDE Controls Sleep Architecture N= 28 N=9 t-test Sleep Efficiency (%) 70.5 ± ± 16.2 NS Total Sleep Time (TST) (min) ± ± 86.8 NS N1 (TST%) 6.0 ± ± 5.9 NS N2 (TST%) 58.5 ± ± 12.5 NS N3 (TST%) 25.0 ± ± 5.0 NS REM (TST%) 8.3 ± ± t REM latency (min) ± ± 65.0 NS
27 Sleep Apnea: Severity & Tonsillectomy Status Mental Health Diagnosis Mod- Severe apnea N=16 Mild apnea N=12 No apnea N=9 Tonsils out N=15 Total sleep apnea Major depressive episode (MDE) N=28 No mental health diagnosis N=9 15 (54%) 9 (32%) 4 (14%) 12 (43%) 86% 1 (11%) 3 (33%) 5 (55%) 3 (33%) 44%
28 Anxiety, Compulsions, Disruptive Behaviors Mood-anxiety disorders increase post-puberty Frequency unknown: Male = Female Repetitive speech, compulsive acts are not exactly the same as OCD which may entail more complex rituals Disruptive behavior results when challenged or transitioned Risk factor: Childhood onset ADHD, Anxiety, Repetition Functional skills: usually maintained, but behaviors may interfere w/ adaptation and self-care
29 Reiss Scales of Dual Diagnosis Other Behavior Withdrawn Somatoform Anger MDE Anxious-DB Controls Anxiety Attention Autism Psychosis Self-Esteem Depression Conduct
30 Respiratory Events & Oxygenation Data PSG Parameter Compulsive- Disruptive N=39 Controls N=15 t-test RDI(n/hr) 30.3 ± ± 11.0 P = 0.02 AHI(n/hr) 24.8 ± ± 10.2 P = 0.03 REM-AHI (n/hr) 29.4 ± ± 9.7 P = 0.03 Central Apneas (n/tst) 5.0 ± ± 5.6 NS Periodic Limb Movements (n/hr) 1.2 ± ± 0.7 NS Mean SaO2 sleep (%) 94.4 ± ± 1.8 NS SaO2 nadir sleep (%) 83.3 ± ± 10.8 NS SaO2 < 90% (TST%) 9.9 ± ± 9.6 NS
31 Sleep Arousal Data PSG Parameter Respiratory Arousal (n/hr) RArI Limb Movement Arousal (n/hr) LMArI Spontaneous Arousal (n/hr) SArI Total Arousal Index (n/hr) TArI Awakening Index (n/hr) AwI Compulsive- Disruptive Controls t-test 13.3 ± ± 5.3 NS 1.2 ± ± 0.7 NS 8.6 ± ± 14.1 NS 23.0 ± ± 13.2 NS 2.5 ± ± 2.4 NS
32 Should we be actively screening for Mental Health and/or Sleep Disorders?
33 Does Sleep Apnea Contribute to Symptoms of Depression and/or Functional Decline? Clear and strong association snapshot view Is there a causal link or are they just co-occurring conditions? What is the natural history of disease progression?
34 Stress-Vulnerability Model Putative Biomarkers ENT Malampatti score BMI, Thyroid, insulin, leptin AHI, Sa02%, ArI, %REM, %N3 O2, CO2, arterial perfusion subcortical/basal ganglia Cortisol, ACTH, CRF, leptin, grehlin Reactive oxygen species, inflammatory cytokines Monoamines, Glutamate/GABA MRI Volumes MRS NAA/Choline Neuropsychology - performance Caretaker ratings Clinician ratings
35 What are your recommendations for approach to diagnosis, surveillance and treatment?
36 Clinical Guidance Sleep apnea. Asymptomatic individuals without daytime (fatigue) or nighttime (respiratory) symptoms of sleep disturbance 1. Asymptomatic adult patients who do not have respiratory symptoms, AND no additional risk-factors: are non-obese (BMI<30), have stable mood and mental health function, stable cardiopulmonary function and an easily visualized hypopharynx could be at lower risk for OSA, but this has not been determined. Asymptomatic patients without additional risk factors do not require routine PSG, but should continue to be monitored for OSA by obtaining a sleep history and consideration of additional risk factors and comorbidities at every visit (standard) 2. Asymptomatic adult patients who do not have respiratory symptoms, BUT have >1 additional riskfactors: are obese (BMI>35), have deteriorating mood or mental status, unstable cardiopulmonary function, crowding or partial obstruction of the hypopharynx may be at increased risk for OSA, but this has not been determined. Asymptomatic patients with >1 additional risk factors should undergo laboratory-based PSG to determine if OSA is present
37 Clinical Guidance Sleep apnea. Symptomatic individuals with daytime (fatigue) or nighttime (respiratory) symptoms of sleep disturbance Symptomatic adult patients with respiratory symptoms without additional risk factors or comorbid medical conditions should undergo routine laboratory-based PSG or alternate testing to determine if OSA is present (standard) Symptomatic adult patients with respiratory symptoms and >2 risk factors or comorbid medical conditions may be at increased risk for moderate-severe OSA, but this has not been determined. For practical purposes urgency becomes increasingly important as the number of risk-factors or the severity of comorbid conditions increases. In particularly complex cases, case management services and team evaluation (sleep medicine, ENT, cardiology, psychiatry, psychology) may be required to expedite assessment and to provide a level of care coordination that is rarely achievable in the outpatient setting. These patients should undergo expedited laboratory-based PSG. For adult patients with >2 riskfactors or severe comorbid medical conditions the urgency of an expedited evaluation is emphasized (option)
38 Clinical Guidance Sleep apnea. Risk factor for condition Upper airway anatomy (Macroglossia, supine glossoptosis, enlarged lingual or palatine tonsils, low lying soft palate, partial-obstruction hypopharynx) Nasal congestion-obstruction Obesity Hypothyroidism (symptomatic) GERD (symptomatic) Medications resulting in lowered muscular tone Living at altitude Comorbid condition which is impacted by condition (OSA) Seizures Pulmonary hypertension Congestive heart failure?? HTN, Atherosclerosis?? Related disturbance resulting from condition (OSA) Deteriorating cognitive function or mental health status < 40yr (non-ad) Hyperlipidemia Stroke
39 Major Depressive Episode- REVISED Adaptation for DM-ID Adapted Criteria for Mild to Profound ID Four instead of five or more symptoms Depressed or irritable mood most of the day, nearly every day, as indicated by either subjective report or observation made by others. With or without moderate-severe sleep apnea??
40 Treatment Considerations Mental Health & Co-morbid Sleep Apnea SLEEP MEDICINE: Getting an overnight sleep study is difficult CPAP mask adherence? training program Airway surgery tonsils, UPPP? Dental appliance, Sleep position, Weight loss MEDICATIONS: For impairing psychiatric symptoms Mood, Anxiety - SSRI/SNRI Antidepressants Psychotic-like disorganization - Newer Antipsychotics Sleep initiation & maintenance sleep medication? Fatigue- Modofanil 8/13/2018
41 Making the Mental Health-Sleep Connection in Adolescents & Adults Consider a Sleep Disorder and getting a Sleep Study NEW change in mental function (depression + decline) Minimally-responsive or treatment-resistant symptoms of depression, mood-instability or psychosis High suspicion required Sleep Apnea may not be obvious Previous T&A is not a prevention or cure Obesity is often absent
42 Approach to Functional Decline History & physical Medication review Mental health / psychosocial evaluation Labs: thyroid, vitamin B12, celiac Sleep study Cervical stenosis: Spine films, CT/MRI?
43 Dementia Earlier onset More rapid decline Increased risk of seizures Not all decline is dementia
44 Dementia: Rule out Depression Sleep apnea Thyroid Vitamin B12 Metabolic disease Celiac disease Loss of hearing/vision AAI Heart disease Normal pressure hydrocephalus Medication side effects Chronic undiagnosed pain Behavioral challenges associated with normative aging
45 Screening Screening measures available for ID: ADAMS DASH-II Glasgow Anxiety Scale Glasgow Depression Scale PAS-ADD Checklist PIMRA Reiss Screen Need for screening measures specific to DS? Increased screening for stressors Self-talk: Change in quality or quantity may indicate sign of stress or mental health problem
46 Treatment challenge for our field Need for evaluation of: Psychopharmacology Cognitive Behavior Therapy Behavior Therapy Generally promising in clinical practice Limited clinical trials in DS
47 Questions to consider What do you do in relation to this topic in your practice area and geographical location? Do you agree/disagree with expert recommendations and if so why? What challenges would there be implementing recommendations in your practice area and geographical location? Is there scope for and should we have national and/or international guidelines on this topic?
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