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The Developmental Causes of Autism in The Teachings of Genetic

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Autism is identified as one of the five disorders that fall beneath the umbrella of Pervasive Developmental Disorders (PDD) or Autism Spectrum Disorder (ASD), a separate class of neurological disorders considered by “severe and pervasive impairment in several areas of development.” ASD is characterized by variable gradations of impairment in communication skills, social interaction and restricted, repetitive stereotyped patterns of behavior.

The five disorders under PDD are an autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s disorder, and PDD-not otherwise specified (PDD-NOS). ASD can often be consistently detected by the age of 3 years; in some cases, it can be detected as early as 18 months. The apparentness of any warning signs of ASD is a vital reason to have the child evaluated by a professional specializing in such disorders. The probable causal factors for the condition are genetic, viral, toxins, pollution, and hypersensitivity to thiomersal in vaccines etc. The precise cause of autism has not been recognized yet, though existing research links autism to biological or neurological differences in TQ the brain. This study has been commenced to distinguish the occurrence of genetic conditions in children with ASD and intellectual disabilities.

Genetic factors play a vital role in the connection of autistic traits in children with intellectual disability. Amongst these, children falling into the category of classical autism do not have allied chromosomal abnormalities, while those with autistic traits and PDD have probabilities of associated chromosomal abnormalities present. It is obligatory that a detailed cytogenetic evaluation has to be suggested in all topics with ASD, more so if the subject additionally shows intellectual disability, abnormal EEG patterns or seizures, muscular hypotonia, severe motor and gait problems or dysmorphic features.

Discussion: What is autism spectrum disorder?

Autism spectrum disorder is a neurological and developing disorder that typically develops throughout the first three years of life. A child with autism seems to live in his or her own world, showing little interest in others, and a lack of social awareness. The emphasis of an autistic child is a reliable routine and comprises an interest in reiterating odd and strange behaviors. Autistic children often have difficulties with communication, avoid eye contact, and show slight attachment to others. Autism can inhibit a child from forming relationships with others, in part, because of an inability to translate facial expressions or emotions. A child with autism may battle cuddling, play alone, be resistant to change, and have late speech development. People with autism tend to exhibit recurrent body movements, such as flapping hands or rocking and have unusual attachments to objects. However, many people with autism excel consistently on certain mental tasks, such as counting, measuring, art, music, or memory.

What causes autism?

Scientists are not able to comprehend the foundation of autism. Research suggests that autism is a genetic condition. It is thought that several genes are involved in the development of autism. Research studies in autism have identified numerous abnormalities in the brain structure and chemicals in the brain, but the findings have not been consistent. One theory is the likelihood that an autistic disorder is a behavioral syndrome that comprises several distinct conditions. However, parenting behaviors are not the cause or a contributing factor to the cause or causes of autism. Autism is a physical disorder connected to abnormal biology and chemistry in the brain. The meticulous causes of these abnormalities remain unknown, but this is a very active area of research. Genetic factors seem to be significant. For example, identical twins are much more likely than fraternal twins or siblings to both have autism. Similarly, language abnormalities are more mutual in relatives of autistic children. Chromosomal abnormalities and other neurological problems are also more apparent in families with autism.

Researchers supported by NIMH and other National Institute of Health (NIH) institutes are studying how an autistic brain differs from a normal brain. Some researchers are investigating possible defects that occur throughout initial brain development; others are looking for defects in the brains of people already diagnosed with autism. Recent neuroimaging studies have shown that a contributing cause for autism may be abnormal brain development beginning in the infant’s first months. This “growth dysregulation” theory holds that the anatomical abnormalities seen in autism are caused by genetic defects in brain-growth factors. It is possible that sudden, rapid head growth in an infant may be an early warning signal that will lead to early diagnosis and effective biological intervention or possible prevention of autism. Postmortem and magnetic resonance imaging (MRI) studies have shown that many major brain structures are implicated in autism. This includes the cerebellum, cerebral cortex, limbic system, corpus callosum, basal ganglia, and brain stem. Other research is focusing on the role of neurotransmitters such as serotonin, dopamine, and epinephrine.

Who is affected by autism?

Approximately one in 88 children in the U.S. have an autism spectrum disorder, according to the CDC. Autism is more predominant in boys than girls, with four to five times as many boys affected than girls.

What are the symptoms of autism?

The following are the most common symptoms of autism. However, each child may experience symptoms differently. Symptoms may include:

Does not socially interact well with others, including parents;

Shows a lack of interest in, or rejection of physical contact;

Parents describe autistic infants as “unaffectionate.”;

Autistic infants and children are not comforted by physical contact;

Avoids making eye contact with others, including parents;

Fails to develop friends or interact with other children;

Does not communicate well with others;

Is delayed or does not develop language;

Once the language is developed, does not use language to communicate with others;

Has echolalia (repeats words or phrases repeatedly, like an echo);

Demonstrates repetitive behaviors;

Has repetitive motor movements (such as rocking and hand or finger flapping);

Is preoccupied, usually with lights, moving objects, or parts of objects;

Does not like noise;

Has rituals;

Requires routines;

The symptoms of autism may resemble other conditions or medical problems. Always consult your child’s doctor for a diagnosis.

The diagnosis of Autism

The typical principles have been established to support the diagnosis of autism in infants or children that are less than “24 months”. In the early eras, autism was not expected to be diagnosed usually until the late – NINJA MIKHASTI CHI BENEVISI? Standard guidelines have been developed to help identify autism in children before the age of 24 months. Previously, diagnosis of autism was often not made until late preschool-age or later. The guidelines can help classify children with autism early, which means earlier, more actual treatment for the disorder. Rendering to the guidelines, all children before the age of 24 months should routinely be screened for autism and other developmental delays at their well-child check-ups. Children that show developmental delays and other behavior disorders should be further tested for autism. The American Academy of Pediatrics recommends that all children should be screened for autism spectrum disorders at 18 months and 24 months, regardless of whether any signs are apparent or any concerns have surfaced about a child’s developmental progress. By screening children early for autism, those diagnosed with the disorder can be treated immediately and aggressively.

What are the guidelines?

The standardized guidelines developed for the diagnosis of autism actually involve two levels of screening for autism. Level one screening, which should be performed for all children seeing a doctor for well-child checkups during their first two years of life, should check for the following developmental deficits:

No babbling, pointing or gesturing by age 12 months

No single words were spoken by age 16 months

No two-word spontaneous (nonecholalic, or not merely repeating the sounds of others) expressions by age 24 months

Loss of any language or social skills at any age

No eye contact at 3 to 4 months

The second level of screening should be performed if a child is identified in the first level of screening as developmentally delayed.

The second level of screening is a more in-depth diagnosis and evaluation that can differentiate autism from other developmental disorders. The second level of screening may include more formal diagnostic procedures by clinicians skilled in diagnosing autism, including medical history; neurological evaluation; genetic testing; metabolic testing; electrophysiologic testing, such as CT scan, MRI, or PET scan; and psychological testing. Genetic testing involves an assessment by a medical geneticist, a doctor who has particular training and certification in clinical genetics. This is because symptoms of autism may be caused by several genetic syndromes, including Fragile-X, untreated phenylketonuria (PKU), neurofibromatosis, tuberous sclerosis, and a variety of chromosome abnormalities.

A geneticist can determine whether the symptoms of autism are caused by a genetic disorder, or whether the symptoms have no known genetic cause. If a genetic disorder is diagnosed, other health problems may be involved. The chance for recurrence in a future pregnancy would depend on the syndrome found. For example, PKU is an autosomal recessive disorder with a reoccurrence risk of one in four, or 25 percent, chance, while tuberous sclerosis is an autosomal dominant disorder, with a reoccurrence risk of 50 percent. In cases where no genetic cause for the autism is acknowledged, the couple has a decreased chance of having another child with autism. This is due to the general population believing it is thought to be because autism may result from several genes inherited from both parents acting in combination, in addition to unidentified environmental factors. There is no action or inaction known that parents could have done, or did not do, to cause autism to occur in a child. Always consult your child’s doctor for a diagnosis and for more information.

Treatment for autism

Specialized behavioral and educational programs are designed to treat autism. Behavioral therapy is used to teach social skills, motor skills, and cognitive (thinking) skills. Behavior modification is also useful in reducing or eliminating maladaptive behaviors. Individualized treatment planning for behavioral therapy is important as autistic children vary greatly in their behavioral needs. Intensive behavior therapy during early childhood and home-based approaches training and involving parents are considered to produce the best results. Special education programs that are an exceedingly structured focus on developing social skills, speech, language, self-care, and job skills. Medication is also helpful in treating some symptoms of autism in some children. Mental health professionals provide parent counseling, social skills training, and individual therapy.

Furthermore, they also aid families with identifying and participating in treatment programs based on an individual child’s treatment needs. Specific treatment will be determined by your child’s doctor based on Your child’s age, overall health, and medical history.

The extent of the disorder

Your child’s symptoms

Your child’s tolerance for specific medications or therapies

Expectations for the course of the disorder

Your opinion or preference

There is no better treatment package for all children with ASD. One point that most professionals agree on is that early involvement is significant; another is that most individuals with ASD respond well to highly structured, specialized programs. Treatment may also include medication as monitored by a medical professional. Following are some of the approaches that have not been shown to be effective in treating the majority of children with autism:

Facilitated communication: The theory is that by supporting a nonverbal child’s arms and fingers so that he can type on a keyboard, the child will be able to type out his inner thoughts. Several scientific studies prove that the typed messages actually reflect the thoughts of the person providing the support.

Holding therapy: The theory is that the parents should hug the child for long periods of time, even if the child resists, to encourage a bond. There is no scientific evidence to support that this creates a bond between parent and child. Auditory integration training: In this therapy, a child listens to a variety of sounds to improve language comprehension. This method is supposed to help people with autism receive more balanced sensory input from their environment. When tested using scientific procedures, the method was shown to be no more effective than listening to music.

Dolman/Delcato method: This treatment has people crawl and move as they did at each stage of early development, in an attempt to learn missing skills. There is no scientific support for this method.

Autism in Adulthood: A few cities are discovering methods to help autistic people hold meaningful jobs and live and work within the wider community. Innovative programs allow the autistic adult to live and work in mainstream society, rather than be limited to a segregated environment. Nevertheless, communication and social problems often cause difficulties in many areas of life. Adults with ASD will continue to need encouragement and moral support in their struggle for an independent life. Many people with ASD are capable of employment in sheltered workshops under the supervision of managers trained in working with persons with disabilities. A nurturing environment at home, at school, and later in job training and at work, helps persons with ASD continue to learn and to develop throughout their lives.

Prevention of autism

Preventive measures to reduce the incidence or severity of autistic disorders are not known at this time.

A wide range of genetic variation is involved in ASD, with interplays of gene-gene and gene-environment interactions. Both genotypic and phenotypic heterogeneity contribute to the difficulty in the thorough exploration and confirmation of causative genetic factors. However, recent technological developments, including NGS, and the accumulation of clinical information are bridging the gap in the application of genetic knowledge towards clinical practice. It is evident that though autism is highly heritable, it is likely that numerous overlapping sets of predisposing genes result in the overall susceptibility in a complex and as yet not understood mechanism. Genetic factors play an imperative role in the causation of autistic traits in children with intellectual disability.

Between these, children falling into the category of classical autism are not associated with chromosomal abnormalities whereas those with autistic traits and PDD have chances of associated chromosomal abnormalities present. It is obligatory that a detailed cytogenetic evaluation has to be recommended in all topics with ASD, more so if the subject also shows intellectual disability, abnormal EEG patterns or seizures, muscular hypotonia, severe motor and gait problems or dysmorphic features. At this stage, I am speculating based on my experiences of children and what we learned from the published research. I think that it is probable that there are at least two groups of children with Down syndrome who are receiving the correct diagnosis of autism and Down syndrome, and another group who are wrongly diagnosed or maybe ‘at risk’ for social withdrawal. So far, there are no sufficiently accurate biomarkers or indicators of which types of mutations a human with autism will have. However, drugs that inhibit or stimulate mGluR5 for Fragile X and autism are currently under development. How patients respond to these drugs could indicate which category of genetic mutations are the root cause of the patients’ autism.

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