A Neuropsychiatric Perspective of Phenylketonuria II: Needs Assessment for a Psychiatric Presence

作者：Angelino Andrew F^*; Bone Ashley; Kuehl Angela K

来源：Psychosomatics, 2012, 53(6): 541-549.

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. Discussion: 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. (Psychosomatics 2012; 53:541-549)

• 出版日期2012-12