1. Describe the role of genetics and environment on the development of psychiatric illness in children.

2. Discuss the effect of negative environmental stimuli on examples of genotypes.

3. Take a family-based approach in the management of psychiatric illnesses in children.

4. Identify triggers and patterns in patients with EDs.

5. Navigate through various levels of care to optimize recovery in patients with an ED.

Genetic and Environmental Influences on Developmental Psychopathology
James J. Hudziak, MD, Professor of Psychiatry, Medicine, and Pediatrics, and Thomas M. Achenbach Chair in Developmental Psychopathology, University of Vermont College of Medicine, and Director, Vermont Center for Children, Youth, and Families, Burlington

Introduction: 80% of adults who suffer from psychiatric illness had onset of illness in childhood; understanding of adult psychopathology requires some understanding of developmental psychopathology; 33% of adult patients have psychiatric illness (occupy 50% of office visits)

Brain development: in children 3 yr of age, frontal part of brain (responsible for reasoning and executive processing) has not begun to myelinate; formations start to take place by 6 yr of age (most children able to sit still and pay attention; “this is why I don’t diagnose and treat attention-deficit/hyperactivity disorder [ADHD] before age 5 yr”); in adulthood (age 28-30 yr), prefrontal and orbital frontal cortical regions begin to form (development of executive processing and problem-solving ability); processes under genetic control; genes, brain development, and behavior affected by environment (eg, nurturing or abuse); during first 10 yr of life, superior intelligence accounted for by rate of rapid cortical thickening, followed by rapid cortical thinning; study saw development of cortical mantle in child 13 yr of age with ADHD similar to that of child 10 yr of age without ADHD; possibly up to 3 yr between development of cortical processes of prefrontal cortex in children with ADHD and children without ADHD

Genetics: all human diseases complex content-dependent entities to which genes make necessary (but only partial) contribution; “new genetics”—may affect medicine, psychiatry, and society; identification of genes that increase risk for illness by 3% to 5%; genes alone may not be harmful; rather, interaction with negative environmental stimuli may increase risk for disorder

Human genome: genome sequencing services available; consists of 3.15 billion chemical bases; changes in genetic code, amino acids, and proteins can lead to illness; 22q11.2 deletion or velocardiofacial syndrome—can result in cleft palate or lip, cardiopathology, or phenotypic variant; almost all such patients have ADHD in childhood; most patients smoke tobacco; 30% develop schizophrenia

Catechol-O-methyltransferase (COMT) genotype: COMT regulates dopamine in prefrontal cortex; COMT subtype with valine (Val) isoform has 4 times more enzymatic activity than that with methionine (Met) isoform (may lead to dopamine deficiency and 3%-5% increased risk for schizophrenia, bipolar disorder, ADHD, depression, and addictive disorders); 26% of population carries Val/Val genotype of COMT; Val/Val genotype—carriers with normal birth weight not at increased risk for conduct disorder or ADHD (2.5-fold increased risk in carriers with low birth weight); carriers who use marijuana at 16% cumulative increased risk for schizophreniform or psychotic reaction (no increased risk with Met/Met genotype)

Monoamine oxidase A (MAOA) genotype: low-expression variant—physical abuse increases risk for violent crime and psychopathology (statistically significant decreased risk seen in absence of exposure to physical abuse); high-expression variant—physical abuse not shown to increase risk for violent crimes

Environmental influences: important to modify environment; encourage activities, eg, sports, playing music, reading; watching television and playing video games shown to increase expression of aggression; gene reactivity—children with short/short genotype (of serotonin transporter gene) and abusive mothers shown to have 80% chance for depression, but lowest overall risk for depression if mothers nurturing; people with short/ short genotype tend not to respond to serotonin agents, but respond to social support; physiology can be changed by genes and environment; medical conditions influenced by multiple genetic and environmental factors

Family-based approach: child behavior checklist—allows parents to categorize children; helps assess conduct disorder, ADHD, thought problems (eg, obsessive-compulsive disorder [OCD]), social problems, somatic complaints, anxiety, depression, and bipolar disorder; estimates environmental influences; child psychiatric disorders influenced by genetic and environmental factors and associated with suffering; children with psychiatric disorder have mother or father with increased risk for adult form of condition (important to manage well-being of parents); discuss with parents that helping them helps their child; teach parents how to, eg, use “time-outs,” actively ignore, encourage reading, avoid television; study found that treatment of depressed mothers improved various problems in children who were not treated

Conclusion: treat psychopathology across pedigree with goal of diminishing influence of negative environment; use common environmental approaches (eg, sports, music, family cohesion); use wellness paradigms (eg, encourage family to exercise together); “keep the well well”; protect those at risk and intervene on behalf of those who are ill; emphasize importance of family

Eating Disorders in a Primary Care Setting
David C. Rettew, MD, Assistant Professor of Psychiatry and Pediatrics, University of Vermont College of Medicine, Burlington, and Erica Bove, Fourth Year Medical Student, University of Vermont College of Medicine

Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria for eating disorders (EDs): fear of gaining weight; disturbance in way body weight or shape experienced; missing ≥3 consecutive menstrual cycles

Complexity of EDs: binge-eating and purging subtype of anorexia; malnourished state can cause symptoms (many behavioral); can be difficult to determine underlying psychopathology and additional burden of malnutrition; often clinically manifests as severe illness, followed by rapid turnaround as first round of symptoms due to malnutrition eliminated

Epidemiology: common; increasing incidence in western countries; incidence of EDs increases as countries become westernized; occurs in higher socioeconomic groups

Course and prognosis: onset often during adolescence (may be earlier with anorexia); many patients improve; one-third of patients do well for long time, then relapse occasionally; some patients with chronic illness require repeated psychiatric and medical hospitalization; mortality with anorexia, 10% (may be somewhat overestimated; rate lower for bulimia)

Triggers: teasing; most patients can describe specific comment made by, eg, parent, coach, peer

Genetics: not uncommon for patient with anorexia to have parent with ED other than anorexia; genetic influence in early adolescence (≈11 yr of age) low, then increases during teenage years; molecular studies currently inconclusive; multiple genes likely to contribute small amount of risk; highest level of maladaptive eating attitudes found in female twins with female co-twin (vs male co-twin; suggests possible role of prenatal factors)

Families and media: influential family dynamics—families with difficulty tolerating negative feelings and emotions; rule-minded and competitive families; families with high supervision and control, with low affection and warmth (classic pattern in EDs); television—study conducted on island in which television newly introduced found strong changes in perceptions of body shape in adolescent girls; Internet—some Web sites contain content that condones or encourages EDs (eg, pictures of thin models, tricks on how to hide ED from parents); negative comments in chat rooms (eg, “you’re a traitor”) in response to those who say they may need to seek help; parents often unaware of amount of time adolescents spend on Web sites

Erica’s experience: goal of recovery to have healthy relationship with food and exercise; complexity of EDs associated with disordered patterns of thinking (eg, “I lived somewhere between anorexia and bulimia; I did not fit into a category”); difficult for health care providers to intervene, due to scheduling and high volume of patients; access to resources important

Background: Erica grew up in high-achieving prominent family in small town; perfectionist personality (eg, “never feeling good enough”; she felt need to challenge self to next level); others in community involved in extracurricular activities and school, but ED was “the one area of my life that nobody else had control over”; Erica remained in cycle of purging through high school (“although painful, there’s a certain comfort to it”); participated on running team (vomiting after practicing hard affirmed by coaches and team [may have contributed to onset of ED]); tried to stop purging; kept calorie count and negative ideas (eg, “you’re not good enough”) in head at all times

Recovery: in college, Erica became involved with support group (eg, therapist, dietitian, body image support group; met daily to undo patterns); however, Erica never approached primary nurse practitioner, due to feelings of shame; creative ways to counter negative thoughts important (eg, keep notes in pocket); reach out to family, friends, and support system; recognize spectrum of ED and impact of influences

Advice for clinicians: ask patients about EDs; assure confidentiality; maintain neutrality; look to patient’s support system (eg, family, friends; management requires group effort); be aware of language (eg, congratulating patient for low BMI); recognize patterns (eg, type A personality) early; avoid using numbers while speaking to patients (patients sensitive to, eg, number of calories, number of miles run)

Screening: important to ask about EDs, especially in vulnerable populations (approach supported by American Academy of Pediatrics [AAP]); if concern about ED exists, likelihood of problem high; may be few or no physical findings on examination; check bone density; comorbidities include depression and OCD (may be as or more treatable than ED)

Management approach: generate motivation to change; correct underlying problems; assemble treatment team of pediatrician, psychiatrist, and dietitian

Treatment and recovery: weight gain—should be slow (eg, 0.5 lb/wk); weight gain of 2 to 3 lb/wk can horrify patients and lead to relapse; psychotherapy—more research in adolescents needed; Maudsley method of using food as medicine (parents assume initial control; then, control transferred to patient); cognitive behavior therapy (CBT)—shown effective in adults (particularly for bulimia); psychopharmacology—no highly effective medications for core symptoms of anorexia; selective serotonin reuptake inhibitors (SSRIs) effective for bulimia; bupropion (eg, Wellbutrin) contraindicated in people who purge, due to increased risk for seizures; olanzapine— antipsychotic drug associated with weight gain; used in some studies because patients’ level of obsessiveness and body dissatisfaction appeared slightly psychotic and delusional; other studies showed weight gain short- lived and followed by relapse

Levels of care: range from outpatient care to medical intensive care unit (ICU); not uncommon to navigate through system as patients improve or worsen; good communication important for avoiding “split of the team” (eg, some clinicians clear on therapy being about food and weight, other therapists feel, “we don’t even talk about weight unless we have to”); strong opinions can result in patient choosing sides; declare team captain, or clarify need for consistency (eg, establish weight goals, amount of focus on weight, criteria for intensive settings, amount of family involvement, and out-of-appointment contacts); hospitalization—specialized units have dedicated protocols for supervised meals, privileges, and weight gain