Autism spectrum disorder and Coffin-Siris syndrome-Case report.

Introduction: Autism spectrum disorders (ASDs) are a group of developmental disorders characterized by deficits in social communicative skills and the occurrence of repetitive and/or stereotyped behaviors. Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degrees, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. In this study, we present a detailed description of autistic traits in a boy diagnosed with CSS and further discuss their genetic backgrounds. Case description: An 8-year-old boy with ASD, congenital anomalies, and neurological problems had been diagnosed with Coffin-Siris syndrome after genetic testing. Genetic testing revealed a heterozygous de novo pathogenic variant (class 5) c.1638_1647del in the ARID1B gene that is causative of Coffin-Siris syndrome but also other intellectual disability (ID)-related disorders, including autism. Tests that preceded the diagnoses, as well as congenital anomalies and developmental issues, were further described in an attempt to better present his phenotype. Conclusion: Both autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology.

Internal Consistency of the Serbian Translation of the Stanford Social Dimensions Scale and Association to Strengths and Difficulties Questionnaire Scores in Male and Female Individuals on the Autism Spectrum and Non-autistic Individuals.

We aimed to evaluate the internal consistency of Stanford Social Dimensions Scale (SSDS) translated to Serbian and to test it against the Strengths and Difficulties Questionnaire (SDQ). The sample consisted of 200 patients (32% ASD) of the Institute of Mental Health in Belgrade, Serbia (68 females, 132 males, Mage=9.61, SDage=4.06). Internal consistency coefficients were within good/acceptable range for Social Motivation, Affiliation, Recognition and Unusual Approach subscales and below acceptable for Expressive Social Communication subscale. The non-autistic group scored higher on all subscales compared to the ASD group. All SSDS subscales positively correlated with SDQ Prosocial Behaviors scale. The SSDS is a valuable instrument for accessing sociobehavioral phenotype in both individuals on the autism spectrum and non-autistic individuals.

Dopamine in Autism Spectrum Disorders-Focus on D2/D3 Partial Agonists and Their Possible Use in Treatment.

Autism spectrum disorders (ASD) are a group of disorders characterized by impairment in social communication and repetitive and stereotyped behaviors. ASD etiology is very complex, including the effect of both genetic and environmental factors. So far, no specific treatment for the core symptoms of ASD has been developed, although attempts have been made for the treatment of repetitive behavior. The pharmacological treatment is aimed at treating non-specific symptoms such as irritability and aggression. Recent studies pointed out to the possible role of altered dopamine signaling in mesocorticolimbic and nigrostriatal circuits in ASD. In addition, several research pointed out to the association of dopamine receptors polymorphism and ASD, specifically repetitive and stereotyped behavior. In this paper, we will provide a review of the studies regarding dopamine signaling in ASD, existing data on the effects of D2/D3 partial agonists in ASD, possible implications regarding their individual receptor profiles, and future perspectives of their possible use in ASD treatment.