Cirnigliaro Lara, Clericò Luisa, Russo Lorenza Chiara, Prato Adriana, Caruso Manuela, Rizzo Renata, Barone Rita
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Pediatric Endocrinology and Diabetology Center, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Front Psychiatry. 2024 Aug 6;15:1431693. doi: 10.3389/fpsyt.2024.1431693. eCollection 2024.
Macrocephaly is described in almost 15% of children with Autism Spectrum Disorder (ASD). Relationships between head growth trajectories and clinical findings in ASD children show a high degree of variability, highlighting the complex heterogeneity of the disorder.
The aim of this study was to measure differences of the early growth trajectory of head circumference (HC) in children with ASD and macrocephaly compared to ASD normocephalic children, examining clinical correlates in the two groups of patients.
HC data were collected from birth to 5 years of age in a sample of children with a confirmed diagnosis of ASD. Participants were classified into two groups: ASD macrocephaly (ASD-M, Z-scores ≥1.88 in at least two consecutive HC measurements), and ASD non-macrocephaly (ASD-N). Based on the distribution of HC measurements (Z-scores), five age groups were identified for the longitudinal study. Developmental and behavioral characteristics of the ASD-M children compared to the ASD-N group were compared by using standardized scores.
20,8% of the children sample met criteria for macrocephaly. HC values became indicative of macrocephaly in the ASD-M group at the age range from 1 to 6 months, and persisted thereafter throughout the first five years of age. ASD-M children showed significantly higher developmental quotients of Griffiths III B and D subscales compared to ASD-N group. No significant differences in the severity of ASD symptoms assessed by ADOS-2 were observed between ASD-M and ASD-N groups.
In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal analyses are required to catch-up prospectively possible relationships between head size as proxy measure of brain development and neuro-developmental and behavioral features in children with ASD.
在近15%的自闭症谱系障碍（ASD）儿童中存在巨头症。ASD儿童的头部生长轨迹与临床发现之间的关系表现出高度的变异性，凸显了该疾病复杂的异质性。
本研究的目的是测量患有ASD和巨头症的儿童与ASD头围正常的儿童相比，早期头围（HC）生长轨迹的差异，并检查两组患者的临床相关性。
收集确诊为ASD的儿童样本从出生到5岁的HC数据。参与者被分为两组：ASD巨头症组（ASD-M，至少连续两次HC测量的Z分数≥1.88）和ASD非巨头症组（ASD-N）。基于HC测量值（Z分数）的分布，确定了五个年龄组进行纵向研究。通过使用标准化分数比较ASD-M儿童与ASD-N组的发育和行为特征。
20.8%的儿童样本符合巨头症标准。ASD-M组的HC值在1至6个月龄时开始表明存在巨头症，并在随后的整个五岁之前持续存在。与ASD-N组相比，ASD-M儿童在格里菲斯III B和D子量表上的发育商显著更高。在ASD-M组和ASD-N组之间，通过ADOS-2评估的ASD症状严重程度没有显著差异。
在本研究中，患有ASD和巨头症的儿童从出生到5岁的HC大小与早在ASD发病和诊断之前的头6个月内加速的HC生长速率相关。我们发现，在幼儿期，与年龄匹配的头围正常的ASD儿童相比，ASD-M儿童在语言、社交沟通和情感技能方面可能表现出一些优势，而自闭症严重程度没有差异。需要进行纵向分析，以前瞻性地了解作为大脑发育替代指标的头部大小与ASD儿童的神经发育和行为特征之间可能存在的关系。
