{
  "abstract": "Objectives Despite early diagnosis and treatment, limited information is available regarding the long-term functioning and participation outcomes of children with hyperphenylalaninemia (HPA). We aimed to examine the long-term adaptive functioning outcomes of children with HPA based on the World Health Organization International Classification of Functioning, Disability and Health Framework (ICF).Methods This cross-sectional study included 72-month-old children who were followed up at Ankara University School of Medicine Department of Pediatrics Developmental-Behavioral Pediatrics Division with a diagnosis of HPA. Comprehensive developmental assessments included ICF-based methods. Vineland Adaptive Behavior Scales-Third Edition (VABS-III) and the Expanded Guide for Monitoring Child Development (Expanded GMCD) were used as assessment tools.Results The sample included 22 children 14 (63.6%) girls. Most (81.8%) received early diagnosis (under 3 months); 63.6% had phenylketonuria, 6 (27.2%) had additional health conditions. In the environmental context, 8 families (36.3%) reported financial difficulties, 3 (13.6%) mothers reported feelings of depression in the Expanded GMCD. Overall adaptive functioning delay were identified in 5 children (22.7%); 6 (27.3%) had delay in communication domain, 4 (18.2%) in daily living skills, 3 (13.6%) in socialization. Half of the sample were attending school/preschool according to their developmental condition.Conclusions In addition to the health and developmental challenges experienced by children diagnosed with HPA from Turkey, a middle-income country, limitations in their environmental context and participation in life was reported in our study. ICF-based assessments and interventions in a medical home model are urgently needed in the management of children with HPA.",
  "authors": [
    {
      "affiliations": [
        "Division of Developmental Behavioral Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey"
      ],
      "name": "Azize Buyukkoc"
    },
    {
      "affiliations": [
        "Division of Developmental Behavioral Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey"
      ],
      "name": "Zeliha Yangınlar Brohi"
    },
    {
      "affiliations": [
        "Division of Developmental Behavioral Pediatrics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey"
      ],
      "name": "Ezgi Ozalp Akın"
    },
    {
      "affiliations": [
        "Division of Pediatric Metabolism, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey"
      ],
      "name": "Fatma Tuba Eminoglu"
    }
  ],
  "title": "195 Adaptive functioning of children followed up due to hyperphenylalaninemia at 72 months based on a holistic framework",
  "uid": "83d0bf5e-f589-5105-a390-d4eea859ccbb"
}