Levy-Shraga Yael, Pinhas-Hamiel Orit, Kraus-Houminer Efrat, Landau Heddy, Mazor-Aronovitch Kineret, Modan-Moses Dalit, Gillis David, Koren Ilana, Dollberg Daphna, Gabis Lidia V
Safra Children’s Hospital, Tel Hashomer, Israel.
J Pediatr Endocrinol Metab. 2013;26(3-4):301-8. doi: 10.1515/jpem-2012-0289.
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants. Its management can be extremely complicated, and may involve medical therapy and surgery. The mainstay of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences.
To assess the cognitive and developmental levels and the adaptive skills achieved by children with CHI who were treated medically over the past decade.
Fourteen children with CHI, under the age of 10 years, who received medical treatment only, underwent a physical and neurological examination and standardized assessments that included the Bayley Scale of Infant and Toddler Development, 3rd Edition, or Kaufman Assessment Battery for Children, the Vineland Adaptive Behavior Scales and the Achenbach Child Behavior Checklist (CBCL) parent questionnaire form.
Twelve children (86%) achieved normal range scores in the cognitive and development assessments (Bayley Scale of Infant and Toddler Development or Kaufman Assessment Battery for Children). Only two showed cognitive achievements below the normal range. The Vineland questionnaire, which was based on parental report, showed below normal adaptive skills in eight patients (57%).
In contrast to previous studies showing a high prevalence of neurodevelopmental difficulties in children with congenital hyperinsulinism, our study showed normal cognitive achievements in most children. This may be attributed to the earlier recognition and better management of the disease in the past decade.
先天性高胰岛素血症（CHI）是婴儿持续性低血糖最常见的原因。其治疗可能极其复杂，可能涉及药物治疗和手术。治疗的主要目标是维持血糖正常，因为婴儿期低血糖会产生严重的神经后果。
评估过去十年接受药物治疗的先天性高胰岛素血症患儿的认知和发育水平以及所达到的适应技能。
14名10岁以下仅接受药物治疗的先天性高胰岛素血症患儿接受了体格和神经学检查以及标准化评估，包括贝利婴幼儿发展量表第3版、考夫曼儿童成套评估测验、文兰适应行为量表和阿肯巴克儿童行为清单（CBCL）家长问卷表。
12名儿童（86%）在认知和发育评估（贝利婴幼儿发展量表或考夫曼儿童成套评估测验）中获得正常范围的分数。只有两名儿童的认知成绩低于正常范围。基于家长报告的文兰问卷显示，8名患者（57%）的适应技能低于正常水平。
与之前显示先天性高胰岛素血症患儿神经发育困难患病率较高的研究不同，我们的研究显示大多数儿童的认知成绩正常。这可能归因于过去十年对该疾病的更早认识和更好管理。
