Specific learning disorders in sex chromosome aneuploidies: Neural circuits of literacy and mathematics.

Sex chromosome aneuploidies (SCA) are associated with an increased risk for specific learning disorders (SLD). Individuals with Klinefelter Syndrome (KS) show an increased incidence of developmental dyslexia and individuals with Turner Syndrome (TS) are often affected by developmental dyscalculia. Accordingly, KS frequently coincides with verbal deficits, and TS with visual-spatial impairments. Though neurocognitive profiles of KS and TS are well-established, little is known about the neurobiology underling learning in SCA. This review summarizes current structural and functional magnetic resonance imaging (MRI) studies in KS and TS related to literacy and mathematical skills. It includes studies that focus on correlates between brain anatomy and cognition in SCA and on functional brain responses during learning-related tasks and at rest. We highlight important neural circuits that are related to domain-specific skills of literacy and mathematics. We discuss how identifying neuroendophenotypes of learning in SCA might contribute to developing a novel framework for SLD that accounts for potential genetic effects on learning, and from the X and Y chromosomes specifically. Future research directions are considered to establish clear brain-behavior relationships that might ultimately improve the treatment of SLD in SCA across development.

A screening on Specific Learning Disorders in an Italian speaking high genetic homogeneity area.

The aim of the present research is to investigate the prevalence of Specific Learning Disorders (SLD) in Ogliastra, an area of the island of Sardinia, Italy. Having experienced centuries of isolation, Ogliastra has become a high genetic homogeneity area, and is considered particularly interesting for studies on different kinds of pathologies. Here we are going to describe the results of a screening carried out throughout 2 consecutive years in 49 second grade classes (24 considered in the first year and 25 in the second year of the study) of the Ogliastra region. A total of 610 pupils (average age 7.54 years; 293 female, 317 male) corresponding to 68.69% of all pupils who were attending second grade in the area, took part in the study. The tool used for the screening was "RSR-DSA. Questionnaire for the detection of learning difficulties and disorders", which allowed the identification of 83 subjects at risk (13.61% of the whole sample involved in the study). These subjects took part in an enhancement training program of about 6 months. After the program, pupils underwent assessment for reading, writing and calculation abilities, as well as cognitive assessment. According to the results of the assessment, the prevalence of SLDs is 6.06%. For what concerns dyslexia, 4.75% of the total sample manifested this disorder either in isolation or in comorbidity with other disorders. According to the first national epidemiological investigation carried out in Italy, the prevalence of dyslexia is 3.1-3.2%, which is lower than the prevalence obtained in the present study. Given the genetic basis of SLDs, this result, together with the presence of several cases of SLD in isolation (17.14%) and with a 3:1 ratio of males to females diagnosed with a SLD, was to be expected in a sample coming from a high genetic homogeneity area.

Specific Learning Disorders and ADHD: Current Issues in Diagnosis Across Clinical and Educational Settings.

With the recent changes in the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM), this article provides a comprehensive review of two high-incidence disorders most commonly seen in childhood and adolescence: specific learning disorder (SLD) and attention-deficit/hyperactivity disorder (ADHD). Updates regarding comorbidity, shared neuropsychological factors, and reasons for the changes in diagnostic criteria are addressed. Although the revisions in the DSM-5 may allow for better diagnostic sensitivity based on the symptomology, specifiers, and the clinical features outlined, there continues to be challenges in operationalizing SLD and implementing consistent assessment practices among mental health professionals particularly when considering the Individuals with Disabilities Education Act (IDEA), which provides guidelines in the evaluation of SLD in school settings. Clinical and educational assessment implications are discussed with special attention to develop a collaborative approach between psychiatrists, psychologists, and educators when providing service delivery for children and adolescents with neurodevelopmental disabilities.