Autistic Spectrum Disorders: Types, Diagnosis Methods, and Treatment Options

Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. People with ASD often have problems with social communication and interaction and restricted or repetitive behaviors or interests. People with ASD may also have different ways of learning, moving, or paying attention.

• ASD Children avoid or do not keep eye contact, do not respond to names, have poor facial expressions, do not play simple activities, and use few or no gestures by 12 months of age (for example, do not wave goodbye, etc.).

• Most people with ASD have other related characteristics. These might include delayed language skills, delayed movement skills, delayed cognitive or learning skills, hyperactive, impulsive, and inattentive behavior, epilepsy or seizure disorder, unusual eating and sleeping habits, unusual mood or emotional reactions, anxiety, stress, or excessive worry, lack of fear, or more fear than expected.

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Genetic aspects of ASD:

High heritability has been reported in ASD; identical twins have a concordance rate of 70-90%. It has been reported that up to 40% of cases of ASD in children have a genetic cause (e.g., genetic syndromes such as fragile X syndrome, Rett syndrome, tuberculosis, mutations in the phosphatase and tensin homolog [PTEN] gene, and structural chromosomal deletions or duplications that can be detected using chromosomal microarrays). In addition, metabolic disorders caused by mitochondrial DNA abnormalities are relatively common in individuals with ASD.

Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are among the major factors responsible for the pathogenesis of autism. CNVs contribute to ASD susceptibilities like 16p11.2 del/duplications and 15q11-13 del/dup.

Epigenetic modifications affecting DNA transcription and various prenatal and postnatal exposures to a variety of environmental factors are other precipitating factors for the occurrence of ASD. Genes involved in methylation such as KMT2C, lysine methyltransferase 58 (KMT5B), and lysine demethylase 6B (KDM6B); chromatin remodeling proteins including MeCP2, CHD8, and POGZ; RNA-binding/splicing proteins such as FMRP and the RBFOX family; post-translational modification proteins like UBE3A, Mindbomb E3 ubiquitin protein ligase 1 (MIB1); or transcription factors like ADNP; and additional sex combs like 3 (ASXL3).

The clearest neuropathology of ASD is synaptic dysfunction. Widely recognized and well-published high-risk candidates for ASD susceptibility include members of the SHANK (SH3 and multiple ankyrin repeat domains) family of postsynaptic scaffolding proteins (i.e., SHANK2/3), the cell adhesion family of neurexins (i.e., NRXN1), and neuroligins (i.e., NLGN2, NLGN4X).

Screening and diagnosis of autism spectrum disorder:

Developmental Monitoring, Developmental Screening, Developmental Diagnosis. The results of a formal developmental evaluation can also inform whether your child needs early intervention services. Sometimes, the specialist might recommend genetic counseling and testing for your child.

Treatment and Intervention Services for Autism Spectrum Disorder: 

The current treatments for autism spectrum disorder (ASD) seek to reduce symptoms that interfere with daily functioning and quality of life.

Types of Treatments:

There are many types of treatments and therapies available. Neuroncy provides autism spectrum disorder treatment in Kolkata. These treatments/therapies generally can be broken down into the following categories, although some treatments/therapies involve more than one approach:

Behavioral, developmental, educational, social-relational, pharmacological, psychological, complementary, and alternative.

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