Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia.
OBJECTIVE
the aim of this study was to study systematically social, communication, and repetitive/restrictive (SCRR) behavioural difficulties and clinical autism spectrum disorder (ASD) in children with optic nerve hypoplasia (ONH) and/or septo-optic dysplasia (SOD), and to investigate the relationship between visual impairment, SCRR difficulties, ASD, and cognition.


METHODS
a case-note study of clinic records from a specialist developmental vision service was completed. Standardized assessments of vision and development and clinician judgements about SCRR difficulties and clinical ASD were made by a multidisciplinary team.


RESULTS
a total of 45 females and 38 males (mean age 3y 5mo; range 10mo-6y 10mo) with ONH or SOD and profound visual impairment (PVI) or severe visual impairment (SVI) were assessed. A total of 58% of children had at least one SCRR difficulty, and 31% had a clinical diagnosis of ASD. The prevalence of ASD was slightly higher in children with SOD than in children with ONH (36% vs 26%) also slightly more frequent in children with PVI than in children with SVI (36% vs 27%). The prevalence of SCRR difficulties was statistically higher in children with PVI than in children with SVI (p=0.003). Clinical ASD was most likely to be diagnosed between 2 years 4 months and 4 years 6 months. Development was significantly delayed in children with ASD compared with children without social communication difficulties (p=0.001).


CONCLUSIONS
children with SVI or PVI are at risk of SCRR difficulties and clinical ASD. Children with ONH and/or SOD and visual impairment have a similar risk of developing clinical ASD as other visual impairment groups. However, ASD prevalence data from this study are a minimum estimate, as some young children may have developed ASD behaviours in later childhood. Developmental surveillance for children with ONH and/or SOD should continue until at least the age of 4 years 6 months.
Parr
Jeremy R
JR
The Wolfson Neurodisability Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Dale
Naomi J
NJ
Shaffer
Lara M
LM
Salt
Alison T
AT
D000367:Age Factors; D002648:Child; D002652:Child Behavior; D002659:Child Development Disorders, Pervasive / Q000150:complications* / Q000523:psychology; D002675:Child, Preschool; D003142:Communication; D005260:Female; D006801:Humans; D007223:Infant; D007398:Interpersonal Relations; D008297:Male; D009900:Optic Nerve / Q000473:pathology*; D015995:Prevalence; D012107:Research Design; D012189:Retrospective Studies; D025962:Septo-Optic Dysplasia / Q000150:complications* / Q000523:psychology; D012720:Severity of Illness Index