EARLY-ONSET SCHIZOPHRENIA Samuel J. Eckrich, M.S. Child Psychopathology University of Central Florida FAMOUS SCHIZOPHRENICS HISTORY OF PSYCHOSIS Trephination • as early as 3,000-10,000 BC • Incas (1350 AD) had 80% survival rate • Emil Kraepelin (1893): Two types of psychosis- manic depressive and dementia praecox. • Eugen Bleuler (1908) coined the term, “schizophrenia.” • Kurt Schneider (1950s): 1st rank symptoms: Delusions and hallucinations • Included in all versions of DSMs • Some Notable changes in the DSM-V CHANGES IN DSM-V 1) Moved from categorical to spectrum approach: “Schizophrenia Spectrum and Other Psychotic Disorders” 2) Now includes the following disorders (Table 1): TABLE 1: DSM-V SZ SPECTRUM AND OTHER PSYCHOTIC DISORDERS. Bhati, 2012 CHANGES IN DSM-V 1) Moved from categorical to spectrum approach: “Schizophrenia Spectrum and Other Psychotic Disorders 2) Now includes the following disorders (Table 1): 3) Eliminated subtypes of schizophrenia: paranoid, disorganized, catatonic, undifferentiated, and residual Bhati, 2012 DIAGNOSTIC CRITERIA FOR SCHIZOPHRENIA ASSOCIATED FEATURES Inappropriate affect (laughing without stimulus) Dysphoric mood (anxiety, depression, sleep disturbance) Lack of interest in eating Somatic concerns (depersonalization, derealization) Cognitive deficits (declaritive and working memory, language, executive fx, processing speed) Sensory processing, inhibitory capacity, and attention Social Cognition deficits (inferring intentions of others) Anosognosia (lack of insight or awareness of illness) DSM-V’S RISK FACTORS Genetic and Physiological (Miller et al. 2011) Conferred by a spectrum of “risk” alleles, common and rare, each contributing a small fraction of total variance. Hypoxia Greater paternal age Prenatal/perinatal adversity, stress, infection, malnutrition, maternal diabetes Environmental (Brown, 2011) Season of birth: late winter/early spring Urban environment DSM-V INFORMED MODEL Genetics Positive Symptoms Negative Symptoms Cognitive Decline Prenatal Stress, Hypoxia, Paternal age Environment: Birth Order and Urban Schizophrenia SCHIZOPHRENIA IN CHILDREN AND ADOLESCENTS Definitions and Classifications Very-early-onset (VEOS), beginning before 13 yrs. old. Early-onset (EOS), beginning before 18 yrs. old. Childhood-onset schizophrenia (COS) or “prepubertal” yet still defined as 12 yrs. or younger, not developmental age. Adolescent-onset schizophrenia (AOS) between 13-17 yrs. * Not incorporated into DSM-V Werry et al., 1991 PREVALENCE Remained stable over past 50 yrs and occurs similarly across different countries and cultures (Hafner et al., 1997) Remschmidt and Theisen 2011 10-18% of all Sz arise before age 18 and 1% before 10yrs old. 42% occur between 21-30. 66% between 20-40. SEX DIFFERENCES/ONSET About equally represented among children and adolescents however some studies: Under 13 and 15-19 yr. old boys develop Sz more frequently (Hafner et al., 2007) More frequent in girls 13-15 (Mehler-wex et al., 2004). Age of onset: Peaks in early-mid 20s for males, later 20s/ for females. Females more likely to have late onset (post 55yrs) Males generally worse premorbid adjustment, lower educational achievement, more prominent negative symptoms and cognitive impairment, and in general a worse outcome (Alvarez-Jimenez et al., 2012). CLINICAL PRESENTATION OF POSITIVE SYMPTOMS IN EOS Hallucinations Auditory (commands, threats, laughter, humming, whistling) Visual, olfactory, gustatory, and tactile are rare, but more common in COS Delusions Ideas of reference Belief of persecution Bodily change Delusions of control Systematized delusions are very rare Thought distortions Insertions, breaks and interpolations in train of thought Vague and incoherent thinking that is not expressed well. CLINICAL PRESENTATION OF NEGATIVE SYMPTOMS IN EOS Speech Logorrhea or general paucity of speech Perseverations and stereotypies Echolalia Neologism Social functioning Withdrawal Emotional manifestations Blunted affect, apathetic, Irritable, fearful, suspicious Incongruent emotional responses OTHER CLINICAL PRESENTATIONS IN EOS Motor disturbances Clumsiness Catatonia Bizarre postures/movements (e.g. stereotypies of fingers) Rituals One study found very high incidences of hallucinations across all modalities in COS (David et al., 2011) 95% Auditory, 80% Visual, 61% tactile, 30% olfactory Tactile and olf. only occurred in those with visual Visual was associated with greater impairment/worse overall brain functioning. *Manifestations often occur long before initial hospitalization VIDEO https://www.youtube.com/watch?v=UTUMt05_nC I Jani DIFFERENTIAL DIAGNOSIS IN EOS Difficult. DSM-V: Delusions and hallucinations are usually less elaborate and must be distinguished from normal fantasy play. Disorganized speech and behavior commonly occurs in other disorders (See Table 3). ETIOLOGY 1) Genetic factors • Heritability • Candidate gene regions 2) Neurobiological factors • • Brain morphology Biochemical 3) Neuropsychological factors • • • • Cognitive Impairment Neurointegrative deficits Attention deficits Communication deficits GENETICS More overlap with COS than Adult-onset Arsanow, 2013 A FEW PROTEIN TARGETS Genes scattered across all but 8 chromosomes have been implicated Most important: Neuregulin 1: NMDA, GABA, & ACh receptors Dysbindin: synaptic plasticity (esp. NMDAR) Catechol-O-methyl transferase: DA metabolism G72: regulates glutamatergic activity Others: myelination, glial function Paternal age thought to have an impact DISRUPTED IN SCHIZOPHRENIA-1 GENE (DISC-1) Expressed in forebrain. Affects cell growth, movement, positioning, and transport. *Animals that expressed a mutated DISC-1 gene (tg) had significantly larger Lateral Ventricle volume at neo-natal stages than those who didn’t express the gene. Hikida et al., 2007 EXPRESSION PATTERN OF EXOGENOUS DN-DISC1 Exogenous DN-DISC1 is preferentially expressed in neonatal stages rather than in adulthood DISC1 expression naturally occurs in wild-type (wt) mice ENLARGED VENTRICLES IN HUMANS OTHER NEUROMORPHOLOGICAL DIFFERENCES Pyramidal cell organization in the hippocampus PYRAMIDAL CELL ORGANIZATION IN HIPPOCAMPUS MORPHOLOGICAL DIFFERENCES IN ADOLESCENTS WITH SZ 1) Enlarged lateral ventricles 1) Reduced gray matter 2) Prefrontal connectivity (DLPFC, VMPFC) 3) Decreased hippocampal volume 4) Decreased cerebellar volume ETIOLOGY 1) Genetic factors • Heritability • Candidate gene regions 2) Neurobiological factors • • Brain morphology Biochemical 3) Neuropsychological factors • • • • Cognitive Impairment Neurointegrative deficits Attention deficits Communication deficits BIOCHEMICAL FACTORS Three main hypotheses: Dopamine (DA), Serotonin (5-HT), and glutamate. Evidence for Dopamine Hypothesis: Amphetamines increase paranoia, delusions, auditory hallucinations and exacerbate Sz symptoms DA antagonists (chlorpromazine, thorazine, other typical antipsychotics) alleviate the positive symptoms. Schizophrenics had ~twice as many D2 receptors occupied as normal (Meyer-Lindenberg et al., 2002) 5-HT AND GLUTAMATE HYPOTHESES Atypical antipsychotics (clozapine, olanzapine, etc.,) block 5-HT2A receptors and increase DA! Negative symptoms were at first thought to be attenuated by AAs. Glutamate: PCP, Mk-801, Ketamine are NMDAr antagonists (decreases glutamate) cause hallucinations, paranoia, and depersonalization. Emulates chronic cognitive dysfunction and hypofrontality found in those with Sz. So why not give glutamate agonist? PROBLEMS WITH BIOCHEMICAL HYPOTHESES Approximately normal levels of DA in schizophrenics (Jaskiw & Weinberger, 1991). Antipsychotic drugs block DA synapses within minutes, but beneficial effects build up over 2 – 3 weeks. Most have very complicated mechanisms of actions: increasing D1 receptors while decreasing D2rs., tinkering with one of the 20 5-HT receptors, or combining. Dark secret…no one really knows what is going on. ETIOLOGY 1) Genetic factors • Heritability • Candidate gene regions 2) Neurobiological factors • • Brain morphology Biochemical 3) Neuropsychological factors • • • • Cognitive Impairment Neurointegrative deficits Attention deficits Communication deficits SUMMARY OF GENETIC AND NEUROBIOLOGICAL FACTORS Genetics obviously play a role, but it isn’t incredibly robust. Certain genes like DISC-1 can contribute to neuroanatomical differences at a young age. Large volume differences in Lateral Ventricle. Structural differences in frontal cortex, hippocampus, and cerebellum. DA, 5-HT, and glutamate hypotheses may account for positive, negative, and cognitive symptoms, respectively. ETIOLOGY 1) Genetic factors • Heritability • Candidate gene regions 2) Neurobiological factors • • Brain morphology Biochemical 3) Neuropsychological factors • • • • Cognitive Impairment Neurointegrative deficits Attention deficits Communication deficits COGNITIVE IMPAIRMENT SPECIFIC TO EOS COGNITION TESTS COMMONLY USED IN EOS * A big problem with using consistent measurements: National Institute of Mental Health MATRICS (Measurement and Treatment Research to Improve Cognition in Schizophrenia) Dr. Green at UCLA is a world leader in Sz research Frangou 2013 NEUROCOGNITIVE TESTS IN CHILDREN WITH ANTECEDENTS TO SZ Meta-analysis of premorbid IQ measurements (assessed in childhood and later developed Sz) ~ 8 IQ points lower than TD individuals who did not go on to develop psychotic symptoms (dES = .55). (Woodberry et al., 2008) In one study by Cullen et al., children (9-12yrs.) At least one 1 “psychotic-like” episode Social, emotional, behavioral problems Early speech and/or motor developmental delays *Mean of all neurocog. tests: dES = .52 •Effect Sizes: GI = .55; VM = .54; WM = .95; EF-I = .66 Fig. 1 Scatterplots indicating the distribution of z-scores obtained on each neurocognitive domain by children presenting putative antecedents of schizophrenia (ASz) and by typically-developing children (TD) without the antecedents. Cullen et al., 2010 TRAJECTORY OF COGNITIVE DYSFUNCTION IN EOS Moving from premorbid to syndromal EOS had 1-1.5 SD worse on IQ tests compared to Adult onset. Big picture: Earlier presentation of symptoms, the more dysfunction later in life. Some areas of cognitive functioning found to be more pervasive. (Frangou 2013). ETIOLOGY OF COGNITIVE DYSFUNCTION: HYPOFRONTALITY/CONNECTIVITY Kyriakopoulos et al., 2012 NEURAL UNDERPINNINGS CONCLUSION During adolescence, significant remodeling and strengthening of neural circuits subserving higher cognitive functions. Functional imaging studies suggest a progressive deviance in prefrontal recruitment from adolescents to adulthood These functional changes along with anatomic differences in EOS show progressive loss in prefrontal gray volume and white matter integrity throughout adolescence and into young adulthood. LONGITUDINAL STUDIES/PROGNOSIS Arsanow et al., 1999 Followed 18 children diagnosed with Sz Two follow-up assessments using K-SADS, K-SKIPS, and GAS at 1-7 years and 11-18 yrs from initial diagnosis. A SYSTEMATIC REVIEW OF EOS PROGNOSIS Global Function Scale, Global Assessment of Functioning, Children’s Global Assessment Scale, Global Assessment Scale, Study-Specific Functioning. ENVIRONMENTAL RISK FACTORS Childhood environment Dunedin study atypical mother-child interactions (OR = 2.65, CI 1.2-5.6) Physical/sexual abuse (Diathesis stress model) Drug use/abuse esp. Psychostimulants and Cannabis (RR = 2.4) Perinatal Pooled OR = 1.07 Maternal malnutrition (OR = 2.9), stress, diabetes, smoking, Poor nutrition = more Sz Season of birth More plausible: Influenza, viruses, parasites Dutch Hunger Winter studies Herpes simplex type 2, taxoplama gondii Obstetric complications Complications of pregnancy Fetal growth and development Complications of delivery Hypoxia (RR = 2-3) Very small effect sizes and OR < 2. Dean and Murray, 2005 ENVIRONMENTAL RISK CONT. Migration Especially African-Caribbean in the UK Higher incidence rates (1.7-13.2) when the group’s position in society was considered disadvantaged. Urbanicity One of the most consistent findings: 38-67% more likely to develop schizophrenia (Pederson et al., 2004). Dose-response fashion (causality?) Several validity/conceptual problems Most likely due to social isolation TREATMENT None listed in Division 53 Pharmacological approach is generally the first line of defense. Second generation antipsychotics (atypical) are primarily antiserotonergic and dopamine altering. (e.g. clozapine, aripiprizole, resperidone, quietiapine, olanzapine) Originally thought to decrease positive and negative symptoms Extrapyramidal symptoms are less common Weight gain is common. First generation antipsychotics (typical) are antidopaminergic (e.g. Haloperidol, Chlorpromazine) Primarily work to decrease positive symptoms Tardive dyskinesia is a common side-effect ANTIPSYCHOTIC INTERVENTION IN ADOLESCENT OS: A REVIEW Very few studies. Generally use Atypical, only aripiprozole is FDA approved. Cochrane review looked at 13 RCTs with over 1,100 participants. Global state, mental state, adverse effects (weight gain, sedation, motor effects), drop out rate were assessed. (Datta et al., 2013) Atypical vs. Placebo: No difference (more dropped out in the placebo group). No difference between AAs, except aripiprozole had less weight gain. No difference in AAs vs. TAs. Need more studies! REVIEW ONLY LOOKING AT PANSS (POSITIVE AND NEGATIVE SYMPTOM SCALE) SCORES AGES 13-17. Shimmelmann et al., 2013 CLINICAL ANTIPSYCHOTIC TRIALS OF INTERVENTION EFFECTIVENESS (CATIE) Big recent (2013) finding from CATIE. No difference between AAs and TAs. Antipsychotic medications are more effective than placebo at reducing positive symptoms and relapse rates. Large meta-analyses studies show approx. 25% with AAs relapsed vs. 65% on placebo (Gilbert et al., 1995; Leucht et al., 2012). No change in cognitive functioning or negative symptoms Quality of life not improved PSYCHOSOCIAL TREATMENT Very few studies for EOS Shimmelman et al., 2013 review *No one treatment is more effective than another. *Most experts suggest combined approach * Family intervention, social, and problem solving skills are probably efficacious. NEW TREATMENT APPROACHES Targeting cognitive and negative symptoms. Metabotropic glutamate receptors (mGluRs), Nacetyl-cystein, phosphodiesterase inhibitors, modafinil, Omega-3, oxytocin. Depot shots to increase adherence. Psychoeducation in the community. Early identification and intervention in prodromal stages. ALTERNATIVE EARLY DIAGNOSTIC TOOLS? Scratch-n-sniff: common odors (pizza, smoke, orange, bubble gum, gasoline, chocolate, clove, wintergreen, etc. Olfaction is processed in frontal and temporal lobes Can predict onset and severity 80+% Sz patients show deficit vs 10-15% in general population Some data suggest M Sz are particularly poor at emotional olfactory memories Venule Caliber Red Light Effect DSM-V INFORMED MODEL Genetics Positive Symptoms Negative Symptoms Cognitive Decline Prenatal Stress, Hypoxia, Paternal age Environment: Birth Order and Urban Schizophrenia Genetics: 1st degree relative, paternal age GABA, glutamate, DA Perinatal: Stress, nutrition, influenza Obstetric: hypoxia Asymptomatic Environment: urbanicity, abuse, parasites, cannabis, social isolation Neuroanatomical chemical: hypofrontality, gray matter, hippocampus, DA, glutamate Cognitive Dysfunction Prodromal A New Model Antipsychotics Positive Symptoms Negative Symptoms 1st Psychotic Episode Fully Symptomatic THE END SPECIFIERS EXECUTIVE FUNCTIONING Well-established in adults. Stroop and Wisconsin Card Sort Test (WCST) COGNITIVE IMPAIRMENT SPECIFIC TO EOS General intellectual ability (IQ) Executive Functioning Especially working memory (d = .78-.98), Attention (d = 1.47), rule discovery/perseveration (d = .7). Processing Speed (d = .66). Earliest detectable difference compared to HC. Associated impairments: verbal memory and learning (d = .68-.96), problem solving (d = .5) TRAJECTORY OF COGNITIVE DYSFUNCTION IN EOS Big picture: Earlier presentation of symptoms, the more dysfunction later in life. Moving from premorbid to syndromal EOS had 1-1.5 SD worse on IQ tests compared to Adult onset Processing speed (Digit Symbol): Two SDs worse compared to HCs in one study() and AOS ES = .66 () Working Memory (Digit Span and 1-back) EOS compared to HC ELECTROPHYSIOLOGICAL FACTORS Differences in skin conductance Slow habituation Evoked Potentials – debatable. Gamma Band asynchrony (40-70 hz)