Clinical characteristics of children with autism spectrum disorders: a cross-sectional study of cases attended at three centers specializing in neurodevelopmental disorders in Kinshasa, Democratic Republic of Congo (DRC)

Context and objective. Autism spectrum disorders (ASD) in sub-Saharan African (SSA) countries are poorly studied. The aim of the present study was to describe the socio demographic and clinical characteristics of children with autism and to identify associated factors. Methods. This was a cross-sectional study of children with ASD attended at three specialized centers in Kinshasa. We confirmed a ASD diagnosis through clinical observation using Diagnostic and Statistical Manuel of Mental Disorders four Text Revision (DSM-VI-TR) criteria and standardized autism diagnostic tools. We analyzed socio-demographic and clinical characteristics and main comorbidities of ASD. The comparison of proportions was done using Pearson's chi-square test. One-way ANOVAs were calculated to test differences in averages. Results. A total of 120 children (72.5 % male) were examined. Their mean age at diagnosis was 7.83 ± 3.4 years, while parents were alerted at 1.8 ±0.78 years. Language delays were the main alert sign (54%) and the main symptom (62%). Social interaction disorders (11.7 %) were underreported by parents. The core signs of ASD were disorders of social interaction (90.5%), behavior (80%) and language (62.5%). The main ASD symptoms were associated with epilepsy(p=0.027), cerebral palsy (p=0.026) and hearing impairment (p=0.045). Conclusion. The diagnostic and language delay co-occurring with epilepsy and hearing impairment are the main clinical features of autism in the DRC. This study suggests that screening children for autism and its main comorbidities using a multidisciplinary approach should be a priority in Kinshasa.

The views and knowledge of parents of children with autism spectrum disorder on a range of treatments

Background. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that appears before the age of 3 years. Symptoms reflect delayed or abnormal social interaction and communication skills, with restricted or repetitive behaviour warranting the need for early intensive treatment.Methods. The aim of the study was to investigate the knowledge and views of parents regarding treatments for their children, aged between 5 and 9 years old with ASD, in eThekwini Metropolitan Municipality, South Africa. An embedded mixed methods research design was utilised. Nonrandom purposive sampling was used to select 46 parents of children with ASD. A 42-item questionnaire was used and the data were interpreted using descriptive statistics and thematic analysis.Results. More than half of the parents (53%) were unfamiliar with or had only heard of treatments in question, while 13.4% had a practical understanding of the treatments. Of all the treatments, parents rated their knowledge of speech-language therapy (SLT) most highly. The majority (68%) stated that they had difficulties accessing ASD treatment facilities and healthcare professionals, and perceived treatments as being costly. Even so, 74% of parents reported that they had a good relationship with their healthcare professional.Conclusion. The above findings should be viewed as motivation for health professionals to share information regarding the range of ASD treatments. They can assist parents in accessing appropriate facilities, recommend treatments that are supported by research, and update their knowledge on advances in ASD treatment

Role of amino acids in the pathophysiology of autism spectrum disorders in Saudi and Egyptian population samples

Autism spectrum disorders are complex developmental disorders with increasing incidence and poorly understood etiology. Imbalance of amino acids profoundly influences brain function, and is thought to be one of the key players in the pathophysiology of autism. This study aimed to measure the plasma amino acid profiles of 20 Egyptian and 20 Saudi autistic patients in comparison to matching healthy controls to clarify the role of impaired amino acid concentrations in the etiology of autism. Plasma amino acids profiles were measured using high performance liquid chromatography. While plasma levels of glutamic, aspartic, and glycine recorded the most significant percentage elevated amino acids, glutamine, asparagine, arginine, tyrosine and isoleucine recorded the most remarkable percentage decrease in autistic patients from both populations compared to controls. Among the calculated relative values, only acidic/basic, and glutamate/glutamine ratios were significantly higher in autistics compared to controls. Non-essential/essential and glucogenic/ketogenic ratios were unaltered in autistics compared to controls. Increased plasma glutamate/glutamine ratio, together with increased glycine, arginine, aspartate, aspargine levels, and acidic/basic amino acid ratio can serve as a predictive tools for the early detection of autism. These findings suggest that glu-tamatergic abnormalities in the brain may be associated with the pathobiology of autism

Characteristics of Children with Pervasive Developmental Disorders Attending a Developmental Clinic in the Western Cape Province; South Africa

Background. Little has been published on autism in Africa; and it is not known whether South African children present with the same characteristics and challenges as described internationally.Objectives. To describe the demographics; history; clinical features; co-morbidity and yield of aetiological investigations in children diagnosed with a pervasive developmental disorder (PDD).Methods. This was a retrospective review of medical records of children fulfilling Diagnostic and Statistical Manual of Mental Disorders; 4th edition; text revision (DSM-IV-TR) criteria for a PDD who attended a tertiary developmental clinic at Tygerberg Hospital; Western Cape; South Africa; over a 2-year period (2008 - 2010) Results. Fifty-eight children were included. The median age at diagnosis was 42 months (range 15 - 106 months); and 45 (77.6) were boys. Forty per cent had complex autism (dysmorphism with or without microcephaly); and 12.1were macrocephalic. Most children (72.4 were non-verbal (using fewer than 10 non-echoed words); and 89.0had behavioural problems as reported by caregivers. The diagnostic yield of investigations was low.Conclusion. The profile of children with PDD attending a tertiary hospital developmental clinic in the Western Cape revealed that a high proportion had severe language impairment; behavioural problems and complex autism

Of Rain Men and Snowcakes : the Presentation; Pathology; Aetiology and Management of Autistic Spectrum Disorder

Over the past two decades; both the prevalence and our understanding of autism have increased exponentially. Autism encompasses a group of behaviourally defined develop- mental disorders; collectively known as autism spectrum disorder (ASD); which appear to be caused by the impact of environment during early life on genetically induced susceptibility. As paediatricians are consulted first by most parents of children with developmental delay; they should be able to discuss the pathology; aetiology and manage- ment of the disorder. Although much remains to be understood; research over the last 20 years has shown that this disorder is treatable; and that early medical/biomedical and behavioural intervention greatly improves the quality of life and outcomes of children with ASD