Postgraduate Program in Genetics Applied to Medicine, Department of Pediatrics, Medical University, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 3° andar, Porto Alegre, RS, 90035-903, Brazil.
Acta Neurol Belg. 2020 Aug;120(4):893-899. doi: 10.1007/s13760-018-0972-2. Epub 2018 Jul 6.
Recent studies have shown that patients with phenylketonuria (PKU), even with the early diagnosis and continuous treatment, may have symptoms of attention-deficit hyperactivity disorder (ADHD) and that the prevalence of ADHD in this population would be higher than in the general population. This study aims to determine the prevalence of ADHD in a sample of PKU patients from Southern Brazil. Patients were prospectively assessed by clinical interviews, neurological examination, and application of the MTA-SNAP-IV scales for patients aged 5-17 years and the Adult Self-Report Scale for patients over 17 years. Thirty-one patients (mean age = 17.4; early diagnosis = 27) were followed. Patients with ADHD and younger than 17 years had a median Phe in the last 6 months of life higher than those without the diagnosis of ADHD (ADHD patients = 617.1 µmol/L, no-ADHD patients 393.2 µmol/L, and p = 0.03). There was a predominantly hyperactive/impulsivity clinical presentation of ADHD (n = 4/5 patients), which differs from that reported elsewhere in the literature. Future studies are essential to better define the clinical presentation of ADHD in these patients and further elucidate its pathophysiology.
最近的研究表明，苯丙酮尿症（PKU）患者即使早期诊断并持续治疗，也可能出现注意力缺陷多动障碍（ADHD）的症状，且该人群中 ADHD 的患病率高于普通人群。本研究旨在确定巴西南部 PKU 患者样本中 ADHD 的患病率。通过临床访谈、神经系统检查和应用 MTA-SNAP-IV 量表对 5-17 岁的患者以及应用成人自陈量表对 17 岁以上的患者进行前瞻性评估。共随访 31 名患者（平均年龄 17.4 岁；早期诊断 27 名）。与无 ADHD 诊断的患者相比，患有 ADHD 且年龄小于 17 岁的患者最近 6 个月的生活中 Phe 中位数更高（ADHD 患者为 617.1μmol/L，非 ADHD 患者为 393.2μmol/L，p=0.03）。ADHD 的临床表现主要为多动/冲动（5 名患者中有 4 名），与文献中的其他报道不同。未来的研究对于更好地定义这些患者中 ADHD 的临床表现并进一步阐明其病理生理学至关重要。
