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Psychiatric alert for psychiatrists

Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome Janice L. Forster, MD—Child and Adolescent Psychiatrist and Linda M. Gourash, MD—Developmental Pediatrician Reasons for Consultation and Referral
meal plan, restricted food access, a plan for daily activities, Prader-Willi syndrome (PWS) is a rare chromosomal disorder mandatory exercise, opportunities for sensory experience, that is unique among all developmental disabilities. The core low expressed emotion, and clear behavioral expectations with reinforcement (emphasis on incentives and natural (characterized by food seeking and lack of satiety), obesity, cognitive impairment and behavior problems. Cognitive and behavioral characteristics include: learning disabilities or Consideration for Case Formulation
mental deficiency, cognitive inflexibility and perseveration, Predisposing Factors: PWS is an imprinting disorder caused repetitive speech and behaviors, oppositionality and by the absence of expression of paternally derived genetic tantrums, collecting and hoarding, and skin-picking. Most material on chromosome 15q11-q13. The missing genes parents and caregivers express more concern about the appear to be responsible for regulating hypothalamic impact of these behavioral features of PWS because they function during development. Psychiatrists need to know management challenges. Many families caring for children characteristics and psychiatric symptoms can vary. Most and adults with PWS will seek psychiatric treatment for cases are due to a deletion of the PWS region on the paternal problems such as mood lability, tantrums, skin picking and chromosome 15, while 25-40% of cases are due to maternal repetitive behaviors. Although the psychiatrist is usually uniparental disomy (UPD). A subset of those individuals with UPD shows autism spectrum disorder. As persons with UPD psychiatrist’s role as a consultant to the treatment team is approach adulthood, the risk for psychosis and mood equally important. The multidisciplinary team may include disorder increases. Family history of psychiatric illness behavioral, educational, residential, and occupational increases the risk for psychiatric disorder in both subtypes. specialists. Most psychiatrists will not have treated more than The major predisposing factors for both behavior problems one or two cases with PWS. More important than previous and psychiatric symptoms are stress sensitivity, cognitive experience is a willingness to learn about the clinical features impairments resulting in problem solving deficits, language and management of PWS. Clinical experience with other disorder, impaired social skills and poor coping strategies. developmental disabilities is helpful, but it is important to know that all persons with PWS display impaired judgment Precipitating Factors: Psychiatric symptoms can be regardless of IQ and verbal language skills. precipitated by stress, and looking to the environment for clues (e.g., loss, grief) is often helpful but not predictive. Approach to Evaluation
Major precipitating factors for both psychiatric and behavioral Patients with PWS will require more time for the initial crises are changes in food access, expectations, structure, evaluation. Often they have limited insight and social consistency, level of support, supervision, and caretaker judgment, and while they can share their thoughts and attitude. Less frequent but important to rule out are drug feelings, they can be unreliable historians. Regardless of the interactions or side effects (e.g., the recent introduction of patient’s age or IQ, parents and caregivers must serve as co- gonadal steroid hormone therapy), sexual abuse or informants to validate all aspects of the history (identification exploitation, and undiagnosed sources of pain or medical of problems, symptom severity and time course, level of conditions. PWS persons have diminished pain sensitivity impairment, family and medical histories) in the patient’s absence. Patients must be supervised during this collateral interview. As with other developmental disabilities, it is best Perpetuating Factors: The following factors perpetuate to take the lead from the parents as to how to communicate psychiatric and behavioral disturbance: environmental most effectively with the patient for the clinical interview and mismanagement (inconsistent food access, unrealistic mental status examination. It is essential to establish a expectations, and inappropriate caretaker behavior), chronic physician-parent (caretaker) partnership early in the process. interpersonal problems, and secondary gain from repeated In PWS, more than any other developmental disability, it is hospitalizations or trips to the emergency room, involvement essential for the psychiatrist to evaluate the environmental of law enforcement, and inadvertent reinforcement with structure of living. The following are the essential components food. Intrinsic factors include chronic communication for the management of syndromal behaviors: a scheduled problems due to speech and language disorders, Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome (cont’d) undiagnosed learning disabilities (especially NVLD) and and they should accompany all medication trials. unrecognized drug reactions (especially mood activation). Psychotherapy: A relationship with an individual counselor is Protective Factors: The following protective factors can extremely helpful; goals include assessment of mood and minimize the risk for psychiatric and behavioral symptoms: insight, avoiding misunderstandings, supportive therapy for environmental stability (predictability, consistency); food losses and life changes and to assist in gaining the patient’s security; deletion subtype; an even cognitive profile; easy- interest and investment in behavior plans. Insight therapy to going temperament; flexible and resourceful caretakers; well- achieve behavioral change has limited benefit. involvement with an informed family; opportunities to Medication: If a person with PWS presents with the clinical practice religious beliefs; and a good working relationship signs of a psychiatric disorder, the use of appropriate classes between the parent/guardian and residential provider. of psychotropic medication is indicated. However the dose response characteristics and side effect profile may be Psychiatric Symptoms and Diagnosis in PWS
It is essential for the psychiatrist to be familiar with the core features of PWS (310.1 Personality change secondary to a General Guidelines: “START LOW; GO SLOW.” Some classes
medical condition- PWS) and to establish the individual’s of medication are more likely to have side effects at standard unique behavioral baseline in order to distinguish between doses in persons with PWS, possibly due to differences in an exacerbation of syndromal behaviors and the emergence drug metabolism or neurosensitivity. Factors affecting of psychiatric symptoms. Psychiatric symptoms may be pharmacokinetics include: abnormal intestinal motility with typical in presentation and indicate an underlying psychiatric delayed gastric emptying that alters absorption; a diet that illness such as psychosis, catatonia, delirium, narcolepsy, may be rich in cruciferous vegetables inducing CYP1A2 mood and anxiety disorders. Sometimes affective and metabolism; and greater fat mass at all BMIs which delays psychotic symptoms may be missed due to unusual premorbid social functioning or reduced ability to articulate pharmacodynamic effects as well. Initiation of estrogen changes in thought process or mood state. However, replacement concurrent with SSRI treatment has caused impairment is always indicated by a loss in level of mood activation, and depot testosterone has been functioning demonstrated by changes in self-care or associated with behavioral activation. Individuals with PWS grooming; sleep pattern; level of interest in eating, social may not display the most typical medication side effects. behavior, or usual preoccupations; and goal-directed Nausea or appetite change is rarely reported, and weight behavior including food seeking or repetitive behaviors. gain is less common due to the close supervision of food Perseveration and excessive, repetitive behaviors are intake essential to the management of all persons with PWS. common in PWS and should not be confused with true OCD. When possible, judge the efficacy of one medication before Severe skin picking may be a manifestation of Impulse adding others. Parents and caregivers need to be informed Control Disorder, NOS. ADHD may manifest as the about expected benefits, possible adverse reactions, or predominantly inattentive type. Central sleep apnea occurs potential drug interactions as they monitor medication independently of obesity, so excessive daytime sleepiness efficacy. Most individuals with PWS are not competent to may be related to a more complex differential diagnosis. give informed consent for medication trials or operative procedures; they may say they understand benefits and risks, Interventions
but their judgment is impaired regardless of age or IQ. In Environmental and Behavioral: If the patient presents with an fact, the use of medication may carry secondary gain, and exacerbation of syndromal behaviors, the most effective individuals with PWS should never be responsible for intervention is to optimize the environment augmented with assessments or input from an applied behavior analyst may Specific Medication Precautions: All classes of psychotropic
be helpful, but most likely the goal of intervention is to alter medications have been used successfully to treat psychiatric the environmental conditions rather than to expect the symptoms in PWS. Some medications, despite their efficacy, person with PWS to change. The individual’s unique carry a higher risk for adverse effects. Persons with PWS attributes such as personal interests and hobbies can be used appear to be prone to mood activation with SSRI in the service of treatment. Behavioral and environmental medications, atypical neuroleptics and modafanil, and interventions should be used for problematic syndromal patients should be monitored closely for the appearance of behaviors before psychotropic medications are considered, increased anxiety, irritability, emotional reactivity, self Psychiatric Alert for Psychiatrists on Prader-Willi Syndrome (cont’d) injurious behavior, or increased goal directed behavior Additional Resources
including food seeking or skin picking. In patient’s with PWSA (USA) has an excellent database of archived materials, PWS, extrapyramidal effects are more difficult to assess due books, and manuals about PWS. The PWSA Clinical Advisory to syndromal hypotonia. Symptoms of neuroleptic Board can help address specific concerns, make referrals or malignant syndrome may be atypical due to syndromal hypotonia and hypothalamic abnormalities causing preexisting temperature dysregulation and excessive Psychiatric Primer is a more detailed resource available at daytime sleepiness. The risk for hyponatremia appears to or be increased when using SSRIs, atypical neuroleptics, carbamazepine, and especially oxcarbazepine. Valproic acid (excellent books, DVDs, and other resources on diagnosing, treating and supporting people with hyperammonemia. Anecdotal reports from parent surveys intellectual disabilities and psychiatric or behavioral concerns) suggest that SSRIs have not been helpful with skin picking, food seeking and food preoccupation, but they have been Fletcher, R., Loschen, E., Stavrakaki, C., & First, M. (Eds). (2007). useful for some anxiety-related symptoms. Topiramate, Diagnostic manual-intellectual disability: A textbook of diagnosis sometimes helpful for skin picking, produces renal tubular of mental disorders in persons with intellectual disability. acidosis (hypochloremic acidosis) that is dose-dependent Kingston, NY: NADD Press. (a new manual with adapted and reversible. Like topiramate, a number of psychotropic diagnostic criteria for making psychiatric diagnoses in people agents are known to exacerbate osteoporosis, which is Szymanski, L., & King, B.H. (1999). Summary of the practice Hospitalization: Although inpatient hospitalization is parameters for the assessment and treatment of children, sometimes necessary, hospital units are not prepared for adolescents and adults with mental retardation and co-morbid the needs of the person with PWS. The nursing and dietary mental disorders. Journal of the American Academy of Child and staff will require very specific guidance on how to manage the syndrome. The PWSA-USA can provide resources for managing food and other issues on hospital units. Ongoing Care: Families who seek psychiatric care should keep a diary of the outcome of every pharmacotherapy visit including the medication prescribed, dosage used, symptoms targeted and reasons for discontinuation. Regular appointments and follow-up calls during treatment are essential. Checklists and anecdotal records may track information about mood, sleep, behavior and thoughts between appointments. Patients with PWS should be expected to give feedback on how dose changes of medication affect their sleep, mood and behavior. Although the patient is a stakeholder in the process, change of any kind is stressful for them. Listening carefully to their feedback can help ensure better patient compliance with your recommendations and successful ongoing management. Prader-Willi Syndrome Association (USA), 8588 Potter Park Drive, Suite 500, Sarasota, Florida 34238 800– 926-4797 * 941-312-0400 * Fax: 941-312-0142 * [email protected] *



16 novembre 2013 Il Resto del Carlino Onco-ematologia, tavola rotonda ricordando Sara Cavalari L’ASSOCIAZIONE Stella Danzante, nata da un gruppo di amici di Sara Cavallari, scomparsa prematuramente per una malattia rara, dà appuntamento oggi alle 17 a Palazzo Bellini per la tavola rotonda sui temi della solidarietà, conoscenza e condivisione di un percorso comune. Inter

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