Autistic Disorder (Early Infantile Autism)

Autism-stacking-cans 2nd edit[1]

Autistic Disorder (ASD), also known as Autism or Autism spectrum disorder, is defined as a particular neurodevelopmental disorder which causes impaired social interaction and communication, in a clinical profile characterized by repetitive behaviors and uneven intellectual development resulting in intellectual disability. The disorder usually appears in early childhood.

Autistic Disorder is caused by the following process: mental. Besides this disease is promted by the process: congenital.


As indicated before, ASD usually appears very early in life, within the first 3 or 4 years. The symptoms indicated below characterize this disorder:

  • Atypical social interaction patters (inability to cuddle and form reciprocal relationships, lack of any kind of attachment, or tendency to avoid eye gaze) [8])
  • Sameness (resistance to any kind of change, ritual performance, abnormal attachment to object that they consider familiar, repetitive behaviors in stereotyped patterns)
  • Unstable intellectual abilities
  • Tendency to injure oneself
  • Frequent loss of previously acquired skills (around 25% of the children have been reported with having lost previously acquired skills).

Another typical sign is the inability to imagine other people thoughts. This can play a pivotal role in the development of ASD, as it might directly lead to abnormal language development. Related to this is the inability of the 1 year old children to point at objects for communicative reasons, which can be explained with the incapability of the patients to realize that the persons addressed might understand what is being indicated. The child finds itself completely unable to point, and tends to indicate only by physically touching the objects using the hand of the adult as pointing tool.

Other typical signs of ASD include mild blindness and nonfocal neurologic findings, like poorly coordinated gait and stereotyped motor movements, and seizure which appears in 20-40% of the cases and especially those with IQ lower than 50.

  • Hyperacusis and Misophonia are both disorders related to “decreased sound tolerance.” []
  • more...
  • psychiatrical
    Stereotyped Behavior
    • An individual must display two of the following: stereotyped behaviors, overly rigid routines, highly specific interests or preoccupations, and hypersensitivity to sensory stimuli in the environment.[]
    • Repetitive and stereotypic behaviors include behaviors such as complex rituals, extreme difficulty adapting to change and transition, and unusual movements such as hand flapping or whirling.[]
    • There may also be cognitive impairment, abnormally increased or decreased reactivity to certain stimuli, stereotypic behaviors, neurological abnormalities such as seizures or altered muscle tone, sleeping or eating pattern abnormalities, and severe behavioral[]
    • behavior, interests, and activities are present, but the criteria are not met for a specific pervasive developmental disorder, schizophrenia, schizotypal personality disorder, or avoidant personality disorder.[]
    • The condition may be manifested by autistic , atypical and withdrawn behavior; failure to develop identity separate from the mother's; and general unevenness, gross immaturity and inadequacy of development.[]
    • They usually seek, and do not avoid affection, and in that sense are more social, outgoing, interactive and less withdrawn than children with autistic spectrum disorder.[]
    • […] child psychiatry for his pioneering work related to autism, first identified the disorder at The Johns Hopkins University in Baltimore.1 Also in the early 1940s, German scientist and pediatrician Hans Asperger, MD, identified patients with similarly withdrawn[]
    • Children with autism who were given the medication also seemed less withdrawn, angry, and anxious.[]
    • The three-year old remains withdrawn and socially detached, and may engage in rocking, head banging, hand flapping or finger flicking.[]
  • more...
  • neurologic
    • […] language. 157 – 161 Potential adverse effects of SSRIs include but are not limited to nausea, drowsiness, sexual dysfunction, constipation, abdominal discomfort, fatigue, headache, dizziness, dry mouth, agitation, behavioral activation, hypomania or mania, apathy[]
    • Selective metabolic testing should be initiated by the presence of suggestive clinical and physical findings such as the following: evidence of lethargy, cyclic vomiting, or early seizures; presence of dysmorphic or coarse features; evidence of intellectual[]
  • more...
  • Entire body system
    • […] language. 157 – 161 Potential adverse effects of SSRIs include but are not limited to nausea, drowsiness, sexual dysfunction, constipation, abdominal discomfort, fatigue, headache, dizziness, dry mouth, agitation, behavioral activation, hypomania or mania, apathy[]
  • more...
  • Workup

    Managing the diagnostic tools and tests necessary to detect ASD is not an easy task and might require several years of experience and extensive training. Therefore, clinicians are strongly advised to send the affected children to specialists if they do not have the necessary expertise.

    Metabolic Studies
    Since several metabolic disturbances have been associated with ASD, they can be used as useful clues to diagnose ASD. However, there is no specific biological marker to indicate, and blood studies cannot be considered as definitive positive response for the diagnosis of ASD.

    Neuroimaging Studies
    Having underlined the presence of many abnormalities in the brain, neuroimaging studies have turned out to be very useful for research. However, because of the inconsistency of their results, these cannot be used as routine diagnostic tools [9].

    Electroencephalography is generally used to rule out the presence of other related disorder, such as seizure, acquired aphasia with convulsive disorder, or biotin-responsive infantile encephalopathy.

    Psychophysiologic assessment
    Since other methodologies have turned out to be unreliable, psychophysiologic assessment is the only available methodology which can be used as effective diagnostic tool. While children affected by ASD might frequently show auditory over selectivity, they do not tend to show typical signs which characterize childhood, like response habituation in respiratory period, electrodermal activity, and vasoconstrictive peripheral pulse amplitude response to repeatedly presented stimuli.

    Polysomnography is very useful in detecting treatable comorbid disorders, such as sleep disturbances including early morning awakening and fragmented sleep [10].


    The mainstays in the treatment of ASD include:

    • Behavioral therapy
    • Physical and occupational therapy (if needed)
    • Pharmaceutical therapy
    • Therapy to cope with speech and language difficultie

    The treatment of ASD is undoubtedly multidisciplinary and is frequently based on approaches which are aimed at encouraging social interaction and communication in different social settings, especially at home and at school.
    It is important that speech and language therapy is started very early using different tools which include signing, picture exchange [11], and communication devices like those based on the use of devices showing symbols selected by the children themselves. If children show physical and motor problems, this should be compensated with specifically planed motor therapies.

    It seems that atypical antipsychotic drug might have a positive effect for relieving behavioral problems, like the ritualistic and self-injurious patters, aggressive behavior, impulsivity, and hyperactivity. As to dietary interventions, they do not appear to be effective at the current stage of our knowledge, and their use is not officially recommended.


    The prognosis of the people affected by ASD is dependent on their IQ. Worse cases need home or residential care for all their life, while the best ones might conduct a relatively normal life, holding jobs, taking responsibilities, and even marrying and having children. Furthermore, several comorbid disorders have been detected, like gastrointestinal pathological conditions whose risk appears to increase with the severity of ASD itself [7].


    • Early childhood psychosis Pervasive developmental disorder Psychosis in early childhood Psychosis with origin in childhood Psychosis, childhood, current or active state Psychosis, early child Residual infantile autism Clinical Information A disorder[]
    • In the past, autism has been confused with childhood schizophrenia or childhood psychosis, and may have been misunderstood as schizotypal personality disorder in some adults.[]
    • Criteria are not met for another specific pervasive developmental disorder or schizophrenia. 299.80 Rett's Disorder All of the following: apparently normal prenatal and perinatal development apparently normal psychomotor development through the first[]
    • Criteria are not met for another specific pervasive developmental disorder or schizophrenia.[]
    • Absence of delusions, hallucinations, loosening of associations, and incoherence as in Schizophrenia.[]
    • Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia. 299.80 Rett's Disorder All of the following: apparently normal prenatal and perinatal development apparently normal psychomotor development through the first[]
    • Indeed, certain maternal infections have been associated with an increased incidence of neurodevelopmental disorders (e.g., schizophrenia and autism) in offspring.[]
    Rett Syndrome
    • The other pervasive developmental disorders are PDD-NOS (Pervasive Developmental Disorder – Not Otherwise Specified), Asperger's Syndrome, Rett Syndrome and Childhood Disintegrative Disorder.[]
    • 2018 Billable/Specific Code Pediatric Dx (0-17 years) Applicable To Dementia infantilis Disintegrative psychosis Heller's syndrome Symbiotic psychosis Type 1 Excludes Asperger's syndrome ( F84.5 ) Autistic disorder ( F84.0 ) Rett's syndrome ( F84.2 )[]
    Childhood Schizophrenia
    • I was able to locate 280 unduplicated cases of “Childhood Schizophrenia” (which was the diagnosis used for autistic disorder at that time) in Wisconsin in children age 12 or under.[]
    • In the past, autism has been confused with childhood schizophrenia or childhood psychosis, and may have been misunderstood as schizotypal personality disorder in some adults.[]
    Fragile X Syndrome
    • Autistic disorder can also be present with other conditions and disorders, like epilepsy and Fragile X syndrome .[]
    • The STAR Institute has sponsored and conducted a number of studies into the comorbidity of SPD with other common childhood disorders such as ADHD, autistic spectrum disorders including Asperger's, Fragile X Syndrome, Prader-Willi Syndrome, and other diagnoses[]
    • Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome.[]
    • People with certain genetic disorders, such as fragile X syndrome, tuberous sclerosis complex and Angelman syndrome, also tend to have autism, experts say.[]
    Lead Poisoning
    • Lead screening – Because lead poisoning can cause autistic-like symptoms, the National Center for Environmental Health recommends that all children with developmental delays be screened for lead poisoning.[]


    The etiology of ASD is still unclear. However, exerts have underlined the influence of a series of environmental, biological, and genetic factors. Among these, genetic factors appear to play a very important role [3], as indicated by the appearance of ASD in people with siblings and parents affected by the same condition or in those affected by genetic and chromosomal disorders such as fragile X syndrome. In any case, the weight of environmental and biological factors should not be underestimated. For instance, ASD is often reported in the children of women taking particular drugs such as valproic acid and thalidomide. Furthermore, many data suggest the existence of a critical period for the development of ASD, which can be placed immediately before, during, and after the birth of affected people [4], and a connection between ASD itself and the age of the parents of the children affected [5].



    According to the data collected from 11 communities being monitored by the US Center for Disease Control and Prevention (CDC), ASD and its related disorders appears to affect 14.7 in 1,000 children aged 8 years (1 in 68 people). The prevalence data coming from these communities are characterized by a marked level of variability, with a value ranging from 5.7 to 22.9 every 1,000 children aged 8 years.

    Sex distribution
    Age distribution


    Neuronal anomalies
    With the help of neuroanatomic and neuroimaging studies, it is possible to observe the presence of several abnormalities in the cellular configurations in some areas of the brain, especially the frontal and temporal lobes and the cerebellum. For instance, typical are the enlargements in the amygdale and hippocampus, combined with an abnormally high quantity of neurons in several divisions of the prefrontal cortex [6]. Furthermore, several differences in the neuroanatomy and connectivity have been underlined with the help of MRI studies. Connectivity is typically reduced or in any case atypical in the frontal brain regions, and the corpus callosum is much thinner. Interestingly enough, the severity of the symptoms appear to be correlated with regional neuroanatomic differences, like the dysfunction of frontal and temporal lobes associated with marked social and language deficits.

    Many data also underline the presence of focal disruptions in the cortical architecture of the brain cortex. These irregularities occur in patches spread on the lobes and in the regions connected with social, emotional, communication, and language functions. The fact that these irregularities appear in patches has led experts to believe that ASD can be stopped, and the brain revived, if the disorder is diagnosed in time.

    At a cellular level, these brain irregularities are connected with an increased level of myelination in the bilateral medial frontal cortices and a decreased one in the left temporoparietal junction. The grey matter too, the layer of the brain made of cell bodies, unmyelinated axons, dendrites, and glial cells, is severely affected, as shown by specific differences in its concentration observed in several regions of the brain. Furthermore, it is also possible to observe a marked reduction in the expression of the gamma- aminobutyric acid–B (GABAB) receptors. This occurs in the cingulated cortex, which plays a pivotal role in the evaluation of social relations, emotions, and cognitions, and fusiform gyrus, connected with the evaluation of faces and facial expressions.

    Metabolic anomalies
    According to experimental data, there is an association with the abnormalities in affiliate behaviors and the dysfunction of serotonin and the neuropeptides oxytocin and vasopressin, which can be also found in one third of the people affected by ASD, as well as their parents and siblings. Furthermore, it is possible to detect frequent functional anomalies also in other neurotransmitters such as acetylcholine and glutamate, or the connection between behavioral disorders and the reduced levels of biotinidase, an enzyme required to recycle the B vitamin biotin.

    People affected by ASD frequently report a certain susceptibility to infection. This tendency can be explained with the recently detected decreased plasma concentration of the complement protein C4B. Furthermore, it has also been revealed a certain correlation between ASD and diet, as in those patients showing impaired metabolism for phenolic amines. Following this line, it is reasonable to believe that ASD symptoms might be aggravated by the consumption of certain foods, like dairy products, sugar, corn, chocolate, and bananas, and that gluten- and casein-free diets might help relieve the clinical profile. However, although very interesting, this association has not been confirmed by large population studies yet.

    The pathogenesis and pathophysiology of ASD also appear to be correlated with oxidative stress, as suggested by a series of decrements found in the patients like reduced levels of cysteine, glutathione, and methionine, the reduced ratio of S -adenosyl-L-methionine (SAM) to S -adenosyl-L-homocysteine (SAH), and reduced ratio of glutathione. Along this line is also the presence of hyperlacticacidemia associated with mitochondrial disorders such as carnitine deficiency, which reflects a disturbed neuronal energy metabolism.


    Since the disorder appears to be substantially genetic, no particular measure can be suggested to effectively prevent it. It is worth noting though that it has been found a certain correlation between thimerosal-containing vaccines or the measles-mumps-rubella (MMR) vaccine and the development of ASD. However, evidence supporting this correlation is inconclusive [12].


    The main symptoms of ASD includes abnormal development which starts in early childhood but gradually becomes manifest only in later stages of life. The patient usually presents a clear history of impaired speech and language delay, which develops into final loss of acquired language skills [1]. ASD has different levels of severity. Epilepsy is seen is about 20-30% of the cases, while intellectual disability in 50%. In contrast to this, some patients might develop increased ability on an average level or even above it. Cognitive profile is uneven, with people showing some time cognitive strengths and some other times cognitive weakness. These core symptoms as usually combined with other coexisting conditions such as difficulty in sleeping or other mental disorders, that are frequently more difficult to manage that ASD itself [2].

    Patient Information

    Autistic disorder (commonly known as autism) is a typical neurological and developmental disorder which usually starts during the first three years of life. The main clinical feature is the tendency of the children to close themselves to the rest of the world, showing little or no interest in others and having no awareness to social relationships and connections. This sign is usually followed by the tendency of repeating odd and peculiar behaviors which frequently consist in personal rites.

    The cause of autistic disorder is still unknown. However, experts believe that autism might have a substantial genetic origin, as suggested by a variety of abnormalities found in the brain of people affected. It is not possible to exclude the possibility that autistic disorder is a behavioral syndrome.

    Although with a certain degree of variability associated with each particular case, the typical symptoms of autism include:

    • Low level of interaction with other people, including parents;
    • Avoiding eye contact;
    • Incapacity to make friends;
    • Lack of interest or rejection of physical contact. This is the reason why children affected by autism are frequently described by their parents as unaffectionate;
    • Delayed speech/language development;
    • Low level of communication with others;
    • Repetitive behavior;
    • Echolalia (tendency to repeat the same words and phrases);
    • Irritability;
    • Repetitive motor movements;
    • Tendency to injure themselves.

    It is important to diagnose autism very early to avoid further complications and try to stop the progress of the disorder in time. This can be done with appropriately organized screening and testing campaigns.

    The mainstay in the treatment of autism is represented by behavioral and educational programs, which are aimed at improving the social interactions and the communication skills. These programs can be implemented in different settings, especially at home and at school. Drugs might be used as well, although their efficacy still remains limited and not properly defined.

    Other symptoms

    • Lead screening – Because lead poisoning can cause autistic-like symptoms, the National Center for Environmental Health recommends that all children with developmental delays be screened for lead poisoning.[]
    • […] glutamate receptors can reverse the symptoms in mouse models of fragile X syndrome. [ 57 ] Autism has also been associated with tuberous sclerosis , a disorder with specific genetic mutations. [58, 59 ] Toxic exposure Exposures to toxins, chemicals, poisons[]
    Onset in Infancy
    • […] in infancy or childhood, characterized by impaired social interaction, impaired communication, and a remarkably restricted repertoire of activities and interests.[]
    • Onset during infancy or early childhood Specify if childhood onset (after 36 months of age) DSM-IV (1994) and DSM-IVR (2000) 299.00 Autistic Disorder A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from[]
    Adenylosuccinate Lyase Deficiency
    • lyase deficiency This rare autosomal disorder of de novo purine synthesis results in the accumulation of succinylpurines in body fluids.[]
    Exposure to Toxin
    • […] to toxins, chemicals, poisons, and other substances have been hypothesized to cause autism.[]


    Ask Question

    5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.


    1. Rogers SJ. Developmental regression in autistic spectrum disorders. Ment Retard Dev Disabil Res Rev. 2004; 10:139-143.
    2. Maskey M, Warnell F, Parr JR, et al. Emotional and behavioural problems in children with autism spectrum disorder. J Autism Dev Disord. 2013; 43:851-859.
    3. Huquet G, Ey E, Bourgeron T. The genetic landscapes of autism spectrum disorders. Annu Re Genomics Hum Genet. 2013; 14:191-213.
    4. Gardener H, Spiegelman D, Buka SL. Perinatal and neonatal risk factors for autism: a comprehensive meta-analysis. Pediatrics. 2011; 128(2):344-355.
    5. Durkin MS, Maenner MJ, Newschaffer CJ, et al. Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol. 2008; 168(11): 1268-1276.
    6. Courchesne E, Mouton PR, Calhoun ME, et al. Neuron number and size in prefrontal cortex of children with autism. JAMA. 2011 Nov 9; 306(18):2001-10.
    7. Wang LW, Tancredi DJ, Thomas DW. The prevalence of gastrointestinal problems in children across the United States with autism spectrum disorders from families with multiple affected members. J Dev Behav Pediatr. 2011 Jun; 32(5):351-60.
    8. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994 Oct; 24(5):659-85.
    9. Filipek PA, Accardo PJ, Ashwal S, et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000 Aug; 55(4):468-79.
    10. Sahota PK, Miles JH, Wang CH. Sleep disorders in children with autism. Neurology. 1997; 48 (3):A258
    11. Dawson G, Rogers S, Munson J, et al. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics. 2010 Jan; 125(1):e17-23.
    12. Demicheli V, Rivetti A, Debalini MG, et al. Vaccines for measles, mumps and rubella in children. Cochrane Database Syst Rev. 2012; (2):CD004407.

    • " Multidimensionally impaired disorder": is it a variant of very early-onset schizophrenia - S Kumra, LK Jacobsen, MC Lenane - Journal of the , 1998 -
    • Autism and Asperger syndrome: coexistence with other clinical disorders - E Billstedt - Acta Psychiatrica Scandinavica, 2001 - Wiley Online Library
    • A comparative study of infantile autism and specific developmental receptive language disorder I. The children - L Bartak, M Rutter, A Cox - The British journal of psychiatry, 1975 - RCP
    • 'Schizoid'personality in childhood and adult life. II: Adult adjustment and the continuity with schizotypal personality disorder. - S Wolff, R Townshend, RJ McGuire, DJ Weeks - The British Journal of , 1991 - RCP
    • Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors - WE Kaufmann, R Cortell, ASM Kau - American Journal of , 2004 - Wiley Online Library
    • An open clinical trial of risperidone monotherapy in young children with autistic disorder. - RL Findling, K Maxwell, M Wiznitzer - Psychopharmacology bulletin, 1997 -
    • Autistic disorder and schizophrenia: Diagnostic overlaps - MM Konstantareas, T Hewitt - of Autism and Developmental Disorders, 2001 - Springer
    • A Comparative Study of Infantile Autism and Specific Developmental Receptive Language Disorder II. Parental Characteristics - A Cox, M Rutter, S Newman, L Bartak - The British Journal of Psychiatry, 1975 - RCP
    • A double-blind, placebo-controlled study of fluvoxamine in adults with autistic disorder - CJ McDougle, ST Naylor, DJ Cohen - of General Psychiatry, 1996 - Am Med Assoc
    • Autistic behaviors in offspring of mothers abusing alcohol and other drugs: a series of case reports - SR Harris, LLJ MacKay - Alcoholism: Clinical and , 2006 - Wiley Online Library
    • A case-controlled study of repetitive thoughts and behavior in adults with autistic disorder and obsessive-compulsive disorder - WK Goodman, ST Naylor, FR Volkmar - Am J Psychiatry, 1995 - AADPRT

    Media References

    1. Autism-stacking-cans 2nd edit, CC BY-SA 3.0


      • Hi, this is Symptoma.