title: A neuropsychiatric perspective of phenylketonuria II: needs assessment for a psychiatric presence.
abstract: BACKGROUND
  Phenylketonuria (PKU) is a neuropsychiatric disease with a genetically transmitted metabolic etiology. A large percentage of untreated, early-treated, and continuously treated patients with PKU suffer from neurocognitive and neuropsychiatric sequelae. To our knowledge, this is the first survey of the mental health needs of persons with PKU and availability of referral and treatment for this population.
  
  
  METHODS
  A targeted, web-based survey was sent to 100 PKU clinics across the United States. Follow-up e-mails were sent to nonresponders.
  
  
  RESULTS
  Thirty-four clinics responded; 56% of responding clinics reported that cognitive issues impaired patients' ability to obtain regular treatment and that screening for cognitive impairment at the clinics varied in scope and format. Clinic screening for cognitive and psychiatric issues are reported, as well as referral practices.
  
  
  CONCLUSIONS
  The authors propose an integrated model for both medical and mental health care of the patients, analyze perceived barriers to screening and referral for cognitive impairment, and discuss the limitations of the survey results.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA. aangelino@jhmi.edu
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Angelino
authors.forename: Ashley
authors.initials: A
authors.lastname: Bone
authors.forename: Angela K
authors.initials: AK
authors.lastname: Kuehl
mesh_terms: D000328:Adult; D000554:Ambulatory Care Facilities / Q000458:organization & administration / Q000706:statistics & numerical data*; D002648:Child; D003072:Cognition Disorders / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D019538:Health Care Surveys; D006301:Health Services Needs and Demand; D006801:Humans; D020407:Internet; D008403:Mass Screening / Q000706:statistics & numerical data; D008605:Mental Health Services / Q000706:statistics & numerical data*; D010348:Patient Care Team / Q000458:organization & administration; D010349:Patient Compliance / Q000523:psychology* / Q000706:statistics & numerical data; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000178:diet therapy / Q000453:epidemiology* / Q000523:psychology; D012017:Referral and Consultation / Q000706:statistics & numerical data; D014481:United States / Q000453:epidemiology
chemical_list: D010649:Phenylalanine