The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism.

This study aimed to highlight the occurrence of autism spectrum disorders (ASDs) in children with septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH). A cross-sectional study was designed, including 28 children with SOD and 14 children with ONH. Clinician diagnosis of ASD was reported in 14 children. The Social Communication Questionnaire (SCQ) reported that 23 children met the cut-off point for ASD, and 9 children met the cut-off point for autism. Greater levels of intellectual disability and visual loss were reported in children with ASD in comparison to those without ASD, but, of the two, intellectual disability was a better predictor for ASD. The SCQ lost its sensitivity and specificity in children who had greater visual loss which highlights a requirement for a measure that is sensitive to visual loss. It is also recommended that children with SOD/ONH would benefit from routine screening for ASDs.

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.

BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients. METHODS: Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in-person examinations, questionnaires, semi-structured interviews of parents and neuropsychological assessments. RESULTS: Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments. CONCLUSIONS: Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.

Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia.

AIM: 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. METHOD: 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). INTERPRETATION: 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.

Septo-optic dysplasia and psychiatric disorders: a case report.

BACKGROUND: Septo-optic dysplasia, a variable combination of abnormalities of cerebral midline structures, is a clinically heterogeneous syndrome in which the midline defects may be implicated in psychiatric disturbances. OBJECTIVE: To describe a case of septo-optic dysplasia associated with depression and psychosis and to discuss the role of these developmental abnormalities in psychiatric disturbances. METHODS: The patient's clinico-anamnestic, neuroradiologic, neuropsychiatric, endocrinologic, ophthalmologic, and genetic profile was evaluated. CONCLUSIONS: Developmental abnormalities due to disruption of the complex neural network linking the septum pellucidum with other limbic structures may have been involved in the affective and psychotic disturbances observed in our patient.