Do you know how to diagnose autism in Infants?

Autism in infants


Autism is a group of complex neurological and neurodevelopmental disorders that are characterized by repetitive and characteristic pattern behavior having major defects in communicating and social behavior. One can detect the symptoms from the early stages of a child’s life. There is no known single cause for this autism but broad awareness, initial diagnosis and taking the required services and supports lead to notable results. The child associated with autism highlight the behavior like learning of language, having no eye contact, lack of conversation, executive functioning like planning and reasoning, very low interests, weak motor skills, and sensory sensitivities. Among these behaviors, a child might follow any of these or just a few or many others besides. Based on the analysis of all behaviors and severity of the child the diagnosis of the autism spectrum disorder is applied. Autism is an association of both genetic and environmental factors.


Autistic symptoms, behaviors, and treatments were explained very long back prior to the autism name were given. Autism had its modern sense in a lecture in German about child psychology, adopting Bleuler’s terminology autistic psychopaths, by Hans Asperger of Vienna University Hospital in 1938. He was at that time investigating the AS, which is now known as Asperger Syndrome, which had no prominence until 1981 as a separate diagnosis. The first person to be diagnosed with autism was Donald Triplett diagnosed by Kanner in 1938 and was labeled as case-I. Autism was then accepted as a separate syndrome in the 1960s and in the 1970’s it was found evident that autism was a genetic disorder and was believed that autism was one of the most inheritable psychiatric conditions in 2007. The DSM-III took until 1980, for differentiating autism from childhood schizophrenia and then provided a checklist for diagnosing autism in 1987. In May-2013 the DSM-5 was released. It updated the classification for the pervasive developmental disorders and then a grouping of the disorders that include PPD-NOS, autism, Asperger Syndrome, Rett Syndrome, and CDD was removed and was replaced with the term Autism Spectrum Disorders. The 2 categories that existed were diminished social behaviors like communication/interaction and repetitive behaviors. ASD can occur in any racial or group irrespective of the socio-economic levels. It is more likely to be developed in boys rather than girls. It is estimated that 1 in 68 children has ASD as per the latest analysis from the Centers for Disease Control and Prevention.

Causes of ASD

Autism is a genetic disorder more explained by the mutations with major effects or by multiple gene interactions of common genetic variants. The cause was the interactions of the multiple genes that led to the complexity, the environment, and the epigenetic factors which do not alter the DNA sequencing but are heritable and influence the gene expressions. The mutations leading to autism has not been identified yet. There are changes in the rise of autism in the case of twins if one is affected the other might have a chance in developing between 36-95%. In families where a first child is detected to have autism has the chance in case of second even in developing autism. There are many genes associated and involved in both chemical and functional connections between the neuron (synapses). Recent research studies show that de novo, or spontaneous, gene mutations can influence the risk in the development of autism spectrum disorder. The changes in sequences of DNA, which can occur spontaneously in a parent’s sperm or egg cell or during fertilization is the de novo synthesis. The mutation occurs in each cell as the fertilized egg divides and this might affect single genes, maybe change called copy number variations, in which stretches of DNA containing multiple genes are deleted or duplicated. In ASD, spontaneous coding mutations across many genes are seen as a risk factor. The de novo mutations explain the genetic disorder where a child has the mutant in each cell but whereas the parent does no has it and this not a family pattern of the disorder. Autism risk is more likely to be showing affected in the children who are born to age-old parents.

Autism cannot be traced to a Mendelian (single-gene) mutation or a single chromosome abnormality and none of the genetic syndromes associated with ASD have been shown to cause ASD. Genes of many candidates have been located with only a few effects attributable to any gene. Maximum loci individually explain <1% cases of autism. Autistic individuals having no affected family members might be the result because of the spontaneous structural variations like deletions, inversions or duplications in the genetic matter while in meiosis. As a resultant of this, only a considerable part of autism cases might be traced to be the genetic causes that are heritable but not inherited in detail, that is the mutation that causes the autism is not present in the genome of the parent. Because of the genetic phenomena like imprinting and X linkage, which has the capability in rising the frequency and severity condition in males and there are theories explaining the genetic reason like the imprinted brain theory and the extreme male brain theory which explains the theory why there are more chances in males getting affected rather than females.

The neurological development of the fetus is influenced by maternal nutrition and the inflammations while in preconception and as well during pregnancy. Poor growth of the fetus during pregnancy that is intrauterine growth restriction associated with ASD in term and preterm birth of the infants. Autoimmune diseases and maternal inflammations might result in damaging the fetal tissues therefore, there are chances in developing any genetic problem or damaging the nervous system. The mother during pregnancy when exposed to heavy metals, and it particulates might lead to an increase in the risk of autism. Few of the environmental factors are claimed to be causing the risks of autism which do not have the evidence like the solvents, infectious diseases, phthalates, PCB’s and phenols which are generally included in the plastic industry, bromide used in certain flame retardants, alcohol, smoking, illegal drugs, vaccines, and prenatal stress. There are still more research studies going on to explain the environmental factors that influence in developing ASD.

Diagnosis of ASD

ASD symptoms vary from person to person basing on the severity of the disorder. At times the symptoms are unrecognized in young children having mild ASD. In general, the autism symptoms appear before the child turns 3. At times the infants show the signs of autism from birth. Basing on the symptoms, signs, and testing in accordance with the DSM-5, created by the American Psychiatric Association used for the diagnosis for the mental disorders. The children must be timely screened during every stage of development and the autistic cases for 18-24 months. The core symptoms of autism are social communicating challenges and restricted and repetitive behaviors. Children with autism are poor in understanding other people’s thoughts and feelings. The resultant is like hectic to them to express themselves, with words, through gestures, facial expressions, and touch. People detected with autism might have issues in learning at times. The skills that they develop are uneven. Quoting an example where they might have trouble in communicating but unusually good at arts, music, math or memory. This might result in well on tests in problem solving and analysis. In case of the autism one can detect the symptoms in early childhood (but sometimes it is unrecognized in the infants) persist and then these behaviors interfere in the daily life of the kid. There are several types of diagnostic instruments available. Of them, 2 are in the usage of autistic research. Autism Diagnostic Interview-Revised (ADI-R) is a semistructured parent interview and the Autism Diagnostic Observation Schedule (ADOS) which uses observation and interaction with the child. The Childhood Autism Rating Scale (CARS) is used in clinical environments in assessing the severity of autism based on observation of children and the diagnostic interview for social and communication disorders (DISCO) can also be used.

General symptoms one can notice for detecting autism are:

  • Early signs like no babbling or point by the age of 1
  • Not a single word by the age of 16 months or 2 phrase words by age 2
  • Giving no response to name
  • Excessive lining up of toys or objects
  • The child has no eye contact
  • Repetition of anything very often, like words, phrases, rocking back and forth, flipping hands
  • A narrow range of interest or keen interest on certain topics
  • Ignoring the people
  • Ignoring the subject when we point to certain objects
  • High sensitivity to sounds, touch, smell, sight which are common to people
  • Have trouble in acquainting to certain things
  • opposing to be cuddled or held
  • having a problem in understanding facial, words, gestures, tones of people
  • talking in a flat voice, sing-song, robotic voice

The team needs a comprehensive evaluating member like psychologist, neurologist, psychiatrist, speech therapist, and many other related professionals who involve in diagnosing and treating AD. The team conducts the evaluating neurological assessment and deep cognitive and language testing. At times hearing problems might be mistaken with ASD.

The symptoms of autism changeover times like symptoms get prominence with age and behavioral treatment. Few children with ASD in adolescence might go into depression or experience behavioral problems and the treatment thus needs modifications. One needs to support and give the care needed to the ASD people to go ahead in their work successfully live their life independently.


As of today, there is no medical treatment for autism. Families and educational systems play a major role as a resource for the treatment. Services must be provided by various therapists like behavior analysts, speech therapists, special education teachers, neurologists, psychologists, and psychiatrists. Behavioral interventions and the Applied behavioral therapies are designed by the specialists to provide treatment to the symptoms and thus improving it. The earlier intervention is the better source as suggested by professionals like the early start Denver model, floortime, occupational therapy, pivotal response treatment, relationship developmental intervention, speech therapy, verbal behavior. The evidence-based interventions have advanced in these years. Certain special education programs and behavior therapy provided in early stages can help in gaining self-care, communications and the skills to improve the functional aspects and thus lessening the symptoms severity and maladaptive behaviors.

There are many associated health issues that accompany ASD like epilepsy, feeding, GIT problems, sleep disturbances, hyperactivity disorder, depression, anxiety, and obsessive-compulsive disorders.

There are certain medications only to treat and lessen the related symptoms like anxiety, depression and obsessive-compulsive disorders. For treating severe behavioral problems there are antipsychotic medications. Anticonvulsant drugs are used to treat seizures. Medications used in treating people with attention deficit disorders can be used in decreasing the impulsivity and hyperactivity in ASD people. The family counseling to the parents and the siblings of the children with ASD help them in coping with the challenges and lead a smoother life. There is no medication for ASD and its main symptoms.

Researches on Autism

There are many scientists working from different points from various universities globally on this. The neurological studies are being focussed on the brain and its effects. The focus is to decrease the burden of neurological diseases. The NINDS is an integral part of the national institute of health, where it is the leading supporter of biomedical research globally. They support the studies on ASD. The researchers are working on the mutations caused in ASD altering the brain functions and the developmental differences. The studies on brain imaging comparing normal to the ASD might lead to the understanding of the alterations and thus leading to new therapeutic interventions. There are many efforts being forth by the scientists working on different aspects as to disclose the causes of autism and leading a revolutionary medication in treating the neurological disorder.

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