Adaptive Status, Autistic Symptoms and Cognitive Profile in Patients with Monogenic Form of Autism Spectrum Disorders – Fragile X Syndrome

Abstract

The article analyzes psychological data of a large group (55 males and 6 females) of subjects with monogenic form of hereditary cognitive impairment with autistic symptoms – Martin-Bell syndrome (FXS) at different age ranges (from 2 to 34 years old). As a result of the analysis, significant cognitive impairments were identified, which persisted throughout the studied age interval (IQ 50 ± 2.1 in males and 60 ± 5.6 in females). Autistic disorders were observed on average in 60% of subjects (less in females) and were most pronounced at 8-12 years. Use of Autism Diagnostic Observation Scale-2 (ADOS-2) allowed us to show that “Social Affect” scale makes the main contribution to overall score of autistic manifestations. Almost all subjects showed a significantly reduced level of adaptive skills. The lowest scores on “Communication”, “Socialization” and “Everyday life skills” scales were observed at the age of 8-12 years. With increase in age, subjects improved only on “Daily Life Skills” scale. It was also shown that a higher degree of adaptation and better nonverbal intelligence was observed in children with less severe autistic symptoms.

Keywords

• mental retardation syndrome linked to fragile x chromosome
• autism spectrum disorders
• martin-bell syndrome
• fragile x syndrome
• socialization
• nonverbal intelligence
• adaptive skills