Soleymani Zahra, Keramati Nasrin, Rohani Farzaneh, Jalaei Shohre
Departments of *Speech therapy and Physiotherapy, School of Rehabilitation, Tehran University of Medical Sciences; and Department of Pediatrics, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences; Tehran, Iran. Correspondence to: Dr Zahra Soleymani, Department of Speech Therapy, School of Rehabilitation, Tehran University of Medical Sciences, Enghelab Avenue, Pitch-e-shemiran, Tehran 11489, Iran.
Indian Pediatr. 2015 May;52(5):397-401. doi: 10.1007/s13312-015-0644-8.
To determine verbal intelligence and spoken language of children with phenylketonuria and to study the effect of age at diagnosis and phenylalanine plasma level on these abilities.
Cross-sectional.
Children with phenylketonuria were recruited from pediatric hospitals in 2012. Normal control subjects were recruited from kindergartens in Tehran.
30 phenylketonuria and 42 control subjects aged 4-6.5 years. Skills were compared between 3 phenylketonuria groups categorized by age at diagnosis/treatment, and between the phenylketonuria and control groups.
Scores on Wechsler Preschool and Primary Scale of Intelligence for verbal and total intelligence, and Test of Language Development-Primary, third edition for spoken language, listening, speaking, semantics, syntax, and organization.
The performance of control subjects was significantly better than that of early-treated subjects for all composite quotients from Test of Language Development and verbal intelligence (P<0.001). Early-treated subjects scored significantly higher than the two groups of late-treated subjects for spoken language (P=0.01), speaking (P=0.04), syntax (P=0.02), and verbal intelligence (P=0.019). There was a negative correlation between phenylalanine level and verbal intelligence (r=-0.79) in early-treated subjects and between phenylalanine level and spoken language (r=-0.71), organization (r=-0.82) and semantics (r=-0.82) for late-treated subjects diagnosed before the age one year.
The study confirmed that diagnosis of newborns and control of blood phenylalanine concentration improves verbal intelligence and spoken language scores in phenylketonuria subjects.
测定苯丙酮尿症患儿的言语智力和口语能力，并研究诊断年龄和血浆苯丙氨酸水平对这些能力的影响。
横断面研究。
2012年从儿科医院招募苯丙酮尿症患儿。正常对照受试者从德黑兰的幼儿园招募。
30名苯丙酮尿症患儿和42名4至6.5岁的对照受试者。比较按诊断/治疗年龄分类的3组苯丙酮尿症患儿之间以及苯丙酮尿症患儿与对照组之间的技能。
韦氏学前及初小儿童智力量表的言语和总智力得分，以及语言发展测试-初版第三版的口语、听力、口语、语义、句法和组织得分。
在语言发展测试和言语智力的所有综合商数方面，对照受试者的表现明显优于早期治疗的受试者（P<0.001）。早期治疗的受试者在口语（P=0.01）、口语表达（P=0.04）、句法（P=0.02）和言语智力（P=0.019）方面的得分明显高于两组晚期治疗的受试者。在1岁前确诊的晚期治疗受试者中，苯丙氨酸水平与言语智力之间呈负相关（r=-0.79），苯丙氨酸水平与口语（r=-0.71）、组织（r=-0.82）和语义（r=-0.82）之间呈负相关。
该研究证实，新生儿的诊断和血液苯丙氨酸浓度的控制可提高苯丙酮尿症受试者的言语智力和口语得分。
