Autism is a developmental disorder found in early childhood and characterized by difficulties in communicating with others and obsessive behavior. Autism is known as Autism Spectrum Disorder (ASD), a general group of complex brain deficits with variations in severity. Presentation of symptoms varies widely in individuals, with regressions in ability common, but improvements over the years may be found as well. Some individuals have alternate abilities in music, math and art.
Autism has been called “classic autism” and “pervasive developmental disorder.” Regardless of the name, the disorder is part of Autism Spectrum Disorder (ASD) and means the same thing. A subset of ASD also includes Asperger’s Syndrome and Pervasive Developmental Disorder Not Otherwise Specified (or atypical autism). Future classification will remove subclasses and the diagnosis will be Autism Spectrum Disorder (ASD), with defined levels of severity.
Signs of Autism in Children
Autism is more common in boys and the disorder is usually present before 3 years of age. Deficits are measurable and developmental in nature. These key characteristics are present from early childhood:
- intellectual disability – low IQ is found in 50%
- attention difficulties
- placid or very irritable as a baby
- feeding difficulties
- unusual posturing
- gastrointestinal disturbances
- epilepsy – 30% of children develop epilepsy
- motor coordination difficulties
- sleep disturbances
- sensory interests
- narrowly focused interests
- social communication difficulties
- social interaction difficulties
- delayed single-word or phrase speech
- language regression – 25% of children lose previously acquired language skills
- verbal communication impairment
- non-verbal communication impairment
The Autism Advantage
New theories about autism focus on the genetic make-up of autistic individuals and similarities to genes in our former hunter-gatherer society. The autism advantage theory postulates that skills of extreme focus and placing non-importance on social activities would have been helpful to a lone hunter in primitive societies. The individuals with autism now, are the offspring of hunter-gatherers whose special abilities helped them survive. While hunting and gathering is now replaced with going to the grocery store, many individuals with special abilities are forced to displace their evolutionary advantage into the modern world. While this theory is new and needs further proof, it may provide comfort to autistic patients. Perhaps they are not disabled, but specially abled after all.
Adult individuals with autism have a less than fifty percent chance to either live by themselves or live by themselves with community support. The majority, over fifty percent, live with relatives, in group homes, or facilities with full-time care. The most important predictor for independent living is the capacity for verbal communication and cognitive ability. Autism is a life-long condition. Sometimes, abilities will improve and sometimes they will decline over the lifetime. Life expectancy is normal except for those with epilepsy and those with severe cognitive dysfunction.
Autism diagnoses have substantially increased over the past twenty years, giving rise to fears of an autism epidemic. Some researchers caution that those fears are unfounded and there is no epidemic. The amount of children with autism is in the same proportions, medical science is just finding them more accurately. Medical science has gotten better at diagnosing properly by 1) eliminating false diagnoses of other neurodevelopmental disorders 2) more accurate diagnostic tests 3) better clinical judgment by physicians. Other researchers say that the 600 percent increase in diagnoses is only partially explained by better diagnostics and awareness.
Worldwide, about 20-40 children out of 1000 children (0.2% to 0.4%) have autism. American children have a 1 in 110 chance of having autism, with boys three times more likely to have it, or a 1 in 70 chance.
- China: 1.1 in 1000
- India: 1 in 250
- UK: 1 in 100
- Mexico: 2-6 in 1000
Causes of Autism
No definitive cause has been identified for ASD. Scientists and clinicians do agree that the cause is brain-based due to development and cognitive disorders, larger heads in some. and epilepsy in many. A genetic causality is suspected but no major genes have been identified. Scientists estimate that 38 percent of the risk comes from genetic heritability and 58 percent comes from the environment. For now, the most scientists can offer are associations:
- Runs in Families – ASD runs in families, sometimes. When one child has autism, the likelihood of the parents or siblings having ASD or ASD-like symptoms is greater. The other family members may not have ASD, but they may have mild cognitive, social or behavioral difficulties known as Broader Autism Phenotype (BAP).
- Medical Disorders – unknown non-genetic factors influence ASD, as 10-15% of autism cases also have an identified medical disorder. Medical causes are generally accepted as important in autism development.
- Anatomical – some children with autism have a larger head and many have a geometrically different facial structure. Neuropathological studies indicate the hippocampus, amygdala and the cerebellar structures for autistic symptomatology. Since the head, face and brain develop in a coordinated effort within windows of time, there may be a correlation.
- Abnormality in Synchronization – 70% of toddlers with autism had abnormalities in synchronization between two brain areas commonly associated with language and communication. Strength in synchronization between the right and left brain may be a marker for neural circuitry overall. This finding may help find autism in the very beginning stages when critical treatment and intervention may best be implemented.
- Imprinted Brain – research suggests that a paternal bias influences the expression of autistic genes. The autistic brain reflects not a male brain in its mechanistic cognition, but a paternal brain, with the father’s genotype dominating.
- Immature Brain Circuits – brain circuits may develop more slowly in autism and may improve with age. The Mirror Systemallows
us to perceive and anticipate the ways of others, which allows us to
mirror their actions and perform acceptably. People with autism have
weak mirror systems in youth but this skill does get better with age and
becomes normal by age 30. Other abilities that may improve for autistic
- Problem solving
- Goal setting
- Synthesizing information
- Anticipating other’s reactions
- Developmental regression – some regression is possible in intellectual, cognitive, social and emotional abilities. No known cause for regression is identified.
- Epilepsy – autistic children and adolescents may develop epilepsy and seizure disorders. Early death is much higher in people with both epilepsy and autism.
- Mood disorders – anxiety, depression, obsessive-compulsions, low self-esteem, self-harm, and eating disorders may occur in adolescence and adulthood with no known cause, except for multifactorial reasons such as puberty, peer pressure, disease stigma, and the challenges of growing older.
- Tuberous Sclerosis – a very small percentage (1-4%) of autistic people will develop benign tumors in the brain.
- Sensory Overload or Underload – some sounds and feelings may overwhelm a child, while another child could break a bone and the parent might not know, because he did not cry.
- Physical Health Issues
- musculoskeletal problems
- gastrointestinal difficulties
- food allergies or intolerances
- weight control issues
- ear, nose and throat complications
- sleep disturbances
- injuries and accidents
- skin irritation and allergies
- vocal or motor tics, Tourette’s disorder
- Sex – people with ASD develop normally sexually and have the same urges as others, but have many more problems and often do not understand the consequences of sexual activity.
- Employment – finding and maintaining work is an important part of life for all adults and people with autism are finding some success in the workplace. However, they face more difficulties than those with other disabilities, earning less and employed at a lower rate.
- Overweight and Obese – one study found that those with Intellectual Disabilities, including autism, were 26% more likely to be overweight or obese, which leads to many more health risks like heart problems and dementia.
- Social Health – isolation stress is an accepted risk factor for negative health status and a cause for early death. Adolescents with autism in one study, were more likely:
- to never to see friends out of school (43.3%)
- never to get called by friends (54.4%)
- never to be invited to social activities (50.4%)
- Being male – boys have a higher risk for autism than females do, 3 to 4 times more.
- Family History – some autistic children have parents or siblings with autism or traits associated with autism, but most autistic children do not have an autistic relative. Siblings or parents may have perfectionistic or obsessive traits, or social communication difficulties.
- Prenatal, Perinatal and Neonatal periods
- advanced maternal age
- advanced paternal age
- being firstborn vs. third or later
- maternal prenatal medication use
- preterm birth
- breech presentation
- planned cesarean section
- low Apgar scores – 1st measure of newborn health: Activity, Pulse, Grimace, Appearance, and Respiration.
- Hyperbilirubinemia – jaundice — a yellow coloring of the skin and eyes
- birth defect
- birth weight is small for gestational age
- multiple births
- maternal infections
Family income, education, and lifestyle – not a risk factor.
ASD screening begins at birth and continues at regular well-child checkups until 3 years of age or until the child enters school. Screening includes screening tools, medical checkups and anecdotal evidence from caretakers. The best ways to identify a child with possible autism include:
- Checklist for Autism in Toddlers (CHAT)
- Modified Checklist for Autism in Toddlers (M-CHAT)
- Ears and Hearing check-ups
- Parent, caretaker or teacher feedback
The American Academy of Neurology and Child Neurology Society recommends evaluation of age-appropriate skill development that most children have at a certain age. For instance:
- At about 1 year, children should babble and gesture (pointing, waving bye-bye).
- At about 16 months, they should say single words.
- At about 2 years, they should say two-word phrases on their own.
- Loss of language or social skills at any age.
- Language delay – by the age of 24 months, children should be using single words. By the age of 33 months, children should be using word phrases. The child might echo words, but does not have spontaneous words of their own, vocalize or babble. Older children may continue to echo others with phrases they have heard, known as stereotyped speech. The ASD child may prefer to use gestures instead of words.
- Language regression – the child may learn or vocalize but then lose the language skills later.
- Motor Movements – mannerisms and tics like hand flapping, rocking, spinning and running.
- Non-verbal communication – the child may not play normal peek-a-boo games or have difficulties pointing to objects. The child’s mood may be difficult to interpret. May avoid eye contact or not respond to smiles.
- Rigid interests or behavior – the child may prefer things said and done in a certain way, gets upset if routine is varied, or placement of objects changes.
- Sensitivity – their 5 senses may be overdeveloped; sounds, smells and itchy clothes may irritate, or the child may not respond to sensory input like loud noises.
- Social impairment – the child may prefer to play alone and not with others. As the child gets older, other children may misunderstand the autistic child’s disinterest. The child may show lack of empathy for others.
- Unusual posturing – unusual body, hands or feet postures, or stiff movements.
The diagnosis of ASD is a clinical one, meaning that a neurodevelopmental pediatrician or child psychiatrist with experience in the disorder should make the determination according to standardized criteria. While some childhood psychiatric diagnoses rely on data from more than one environment, like home and school, ASD is diagnosed in the very early years before the child enters school. To make the diagnosis, the physician conducts a physical exam, orders diagnostic testing, accepts feedback from the parents (The Social Communication Questionnaire (SCQ) is a parental questionnaire or Autism Diagnostic Interview-Revised [ADI-R]), and in some cases watches videotapes of the child functioning at home or directly observes the child. The earlier the diagnosis is made, the better chance of intervening with appropriate treatment for the child, and support and genetic counseling for the parents.
Children with ASD are usually medically healthy, however a small percentage have some medical issues like fragile X syndrome or tuberous sclerosis. Some children have larger heads, known as macrocephaly. Some babies may be irritable and difficult to put down or difficult to put to sleep. Other babies may be too quiet. Some autistic children have feeding problems and may refuse bottles or solid food. Following the clinical history and examination, diagnostic tests may be performed depending on if the clinician suspects a specific disorder or likelihood of additional complications like epilepsy.
Fragile X and chromosome testing – indicated for children with intellectual disability or dysmorphism (anomalies in facial or head structure). Testing is important to provide parents with genetic counseling.
Metabolic tests – to look for genetic or non-genetic conditions like epilepsy or early onset seizures.
EEG or CT or MRI – not normally helpful, but may be useful to rule out medical conditions or if severe language regression is apparent.
Lead screening – to test for lead poisoning, as some autistic children may eat non-food items like paint.
M-methyl-CpG binding protein (MECP2) deletion – a test for girls with autism to rule out Rett syndrome.
Audiology tests – deficits in hearing may cause language delays so audiological assessment is important in the early days of diagnosis.
Wood light skin examination – looks for hypopigmented macules which indicate the presence of tuberous sclerosis.
Psychological tests and speech and language tests – helps to precisely assess the child’s status and prepare an education plan.
The Diagnostic and Statistical Manual of Mental Disorders (DSM IV) is published by the American Psychiatric Association and provides a common language and standard criteria for the diagnosis of ASD.
Typical Autism: abnormal development before the age of 3 years and abnormal functioning in all 3 areas of psychopathology: reciprocal social interaction, communication, and restricted, repetitive behavior.
A. A total of 6 (or more) items from lists 1, 2, and 3, with 2 from list 1, and at least one each from lists 2 and 3:
1. Qualitative impairment in social interaction, manifest by at least 2 of the following:
- Marked impairment in the use of multiple non-verbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures, to regulate social interaction.
- Failure to develop peer relationships appropriate to developmental level.
- Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest).
- Lack of social or emotional reciprocity.
2. Qualitative impairment in communication, as manifest by at least one of the following:
- Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime).
- In people with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.
- Stereotyped and repetitive use of language, or idiosyncratic language.
- Lack of varied, spontaneous make-believe, or social imitative play appropriate to developmental level.
3. Restrictive repetitive and stereotypic patterns of behavior, interests, and activities, as manifested by at least one of the following:
- Encompassing pre-occupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus.
- Apparently inflexible adherence to specific non-functional routines or rituals.
- Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements).
- Persistent pre-occupation with parts of objects.
B. Delays or abnormal functioning in at least one of the following areas, with onset before age 3 years:
- Social interaction
- Language as used in social communication
- Symbolic or imaginative play.
C. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder. The other pervasive developmental disorders include Asperger’s disorder, Rett’s syndrome, childhood disintegrative disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), or atypical autism.
Atypical autism: Children do not meet DSM-IV criteria for autism. They may have language delay, communication problems, are profoundly retarded, or specifically learning disabled.
Since autism is a brain-based developmental disorder, treatment seeks to improve the positive neural networks and downgrade the neural networks that produce negative affect. Children with autism can improve social communication and cognition and reduce behaviors that have a negative impact on social functioning and learning, like repetitive behaviors.
Early diagnosis is emerging as critical to treatment success. Researchers have found that they can now identify autistic behavior in children as young as 12 months old and diagnose them as young as 18 to 24 months. By watching large groups of children, they have found that at 12 months, children who are later diagnosed as autistic, will show specific behaviors that normal children will not. Twelve month old autistic children show deficits in “joint attention behaviors.” In other words, they cannot pay attention to a toy and to another person at the same time. They also do not imitate others as much. By knowing these clues at an early age, parents can initiate therapy earlier as well, with better outcomes and possibly realize, according to researchers, a cure for autism.
If a child has problems imitating, that could explain the later language problems and deficits in learning about their environment. In a therapy known as reciprocal imitation training, therapists encourage the child to practice imitating by making it fun and rewarding. Therapists also teach the parents these techniques in order to practice at home. Researchers hope that finding the right techniques to stimulate the neural networks as early as possible, might eliminate autism.
Interventions are Costly and Time-Consuming
Trained specialists who work in the autism field can spend many hours with a child in a special setting or at home with parents. These specialists can be very expensive but the effort is beneficial. However, very little evidence supports one training or teaching method over another. No specific guidelines are in place for intervening in age groups, or whether specific or generic approaches are best, or what works in the short-term or the long-term. Much more work is needed to define approaches best suited for parents, teachers, best approaches for very early diagnosis, for later diagnosis and much more.
Accepted and known details about treatment:
- The behavioral method chosen, should be adhered to by the specialist, parents, and the school.
- Interventions are expensive, and may not be publicly funded.
- Long-term data on interventions is lacking.
- No way is known to measure the outcome of specific treatments.
- Caring for an autistic child has direct costs for treatment and intervention.
- Caring for an autistic child has indirect costs in lost earnings for the parent.
- The intervention for the autistic child must be balanced against the needs of the family as a whole unit.
Options for children with autism and their parents include behavioral therapy, learning strategies, social interventions, medications, and alternative strategies. The following are examples of the kinds of treatments in current practice. Your country, locality, physician and school may have other programs and methodologies. Parents are advised to consult with their physicians or consult nationally accepted programs. Associations and mainstream organizations often have updated websites with information on standard and emerging programs. Parents are additionally advised to beware of false promises, programs without scientific evidence, and programs which offer cures for autism.
Applied Behavioral Analysis (ABA)
This program is an intensive (up to 40 hours a week) one-on-one, heavily structured intervention aimed at children 2-3 years of age. The goal is to provide autistic children with an environment that rewards positive behaviors and discourages negative behaviors. The negative behaviors that the program seeks to dissuade are repetitive interests and over-activity. These negative behaviors are discouraged because they get in the way of the learning process and the socialization process. This program has some evidence that it is likely to be beneficial for children with autism.
Autism Pre-School Program
A course for parents and caregivers, this program seeks to provide support for social and communication difficulties. Behavioral and language development techniques are practiced with the autistic child and the parent, which the parent then practices at home with the child.
Early Start Denver Model (ESDM)
Trained therapists deliver this intervention to parents who can then carry out therapy based on behavioral guidelines. This method has shown some qualitative improvement in improving cognition and behavior, and reducing symptoms of ASD.
More Than Words (Hanen program)
This program is designed for parents of children less than 6 years of age. Strategies include interventions in social interaction and communication. Research on this model shows it to be of some value for children with ASD.
Treatment and Education of Autistic and Communication related Handicapped Children (TEACCH)
Teachers in the school system are supported with this program by structuring a developmental program in the classroom setting. This provides continuity between the home environment and the school environment, and provides coordination between parents and teachers. Parents are trained in the ways of the program and this allows children to learn developmental skills in day therapy or special schools. This program is acknowledged as likely to be beneficial for ASD.
Parent training is very important for the development of autistic children, as all children learn and grow by interacting with and mimicking their parents. ASD parents need special training to help their special children. Techniques will vary by program or professional teacher, but the main goals are to help the parent to understand their child’s needs, interact with them on a level that is helpful, and encourage parents to intervene if necessary to discourage unwanted behaviors which interfere with learning. Evidence is mixed on the efficacy of these programs, but they certainly cannot hurt and they may at least help the parent and child bond as they share structured interactions.
A video feedback program which encourages closer interpersonal interaction between parent and child. The parent is helped to identify which interpersonal strategies their child responds to, and what makes interaction successful overall. Interactions are considered successful when the child engages and becomes more social and communicative. Evidence is positive that this strategy is more helpful than not.
Picture Exchange Communication System (PECS)
Children with autism need help in communicating their needs. This program enables the child to use a picture card to request or communicate a need. Pictures are most often used, but objects or symbols and computer-based media are used, as well. This method is not used instead of structured teaching methods, but as an adjunct or aide to standard communication. Some benefits of this program have been studied and acknowledged.
A play-based method developed by a child psychiatrist to help parents interact with their children, in a way that puts the child’s way of seeing things first. While this method is not proven, the method is available on DVD, and interacting with the child in a playful manner cannot hurt.
Drug therapy is not useful for the core features of autism, as the neural networks are defined and cannot be changed. However, some medications may be helpful in modifying behavior and mood disturbances. Medications for young children should be used with restraint, as the long-term consequences of administering drugs may outweigh the short-term benefits.
- Risperidone – trade name Risperdal, an atypical anti-psychotic used to treat irritability in older children with autism. A specialist should evaluate the challenging behavior of the autistic person and evaluate aggression, irritability, self-harm, and temper tantrums when behavioral therapy is not helping. Studies have concluded that Risperidone can lessen the challenging behavior but health must be monitored. Weight, blood pressure, and serum prolactin levels should be evaluated at regular intervals.
- Selective Serotonin Reuptake Inhibitor (SSRIs) – example: trade name Prozac, may have moderate benefits for symptoms of depression, obsessive-compulsive disorder, anxiety, and eating disorders when behavioral strategies do not work.
- Methylphenidate (MPH) – trade name Ritalin, a psychostimulant commonly used to treat ADHD. Patients with ADHD have a 80-90% response rate to MPH, but children with autism have only a 30% response rate to MPH. The drug is used to limit hyperactivity that interferes with learning or social behavior at home or at school. Monitoring of weight and blood pressure is necessary.
Some parents swear that their child does better on a gluten-free (wheat, rye, and barley) or casein-free (milk, cheese) diet. No overwhelming scientific evidence supports these claims. However, since some autistic children do have gastrointestinal problems talking with a physician about dietary influences may be helpful. All children need robust nutrition to support their rapidly growing bodies and brains, so nutrition should play a primary role in every child’s life, especially autistic children. In addition, proper sleep and opportunities for exercise can help the brain grow, strengthen connections, reduce tension and promote a sense of well-being.
Children with autism need monitoring through adolescence and into the adult years. A team approach is best as many changes happen for people during their lifespan, especially puberty. The best course of action is to develop a team of experts to call on if the situation warrants it. A child psychiatrist or educational psychiatrist may want to monitor your child’s progress over the years. Children with autism may develop epilepsy and other medical illnesses. Adolescents may develop depression. Research and treatments will change and improve in time, and experts will have the necessary information for your child.
Talking to the Child
All conversations between parent and child are personal and take place in an individual way. Sometimes the parent can be proactive and discuss problems before they arise. Sometimes the child pushes the conversation when they are ready. Parents are wise to discuss issues with other parents, parents groups, or the physician so they can proactively explain information to the child honestly and at the appropriate time.
Since no gene has been identified for autism, genetic testing is unreliable. There is no test to identify autism while the child is in the womb. No environmental causes for autism has been identified, so prevention is not yet possible. The only course for prospective parents is to weigh the risk factors and change or modify possible risks. Parents who have had one autistic child have a 5-10% risk of having another autistic child, so they must weigh the facts in that case. In addition, all mothers, not just those wishing to prevent autism, need to maximize and optimize conditions for fetal growth. Strategies include avoidance of toxins, proper and complete nutrition, minimizing stress, and careful consideration of vaccines.
Facial Characteristics of Children with Autism
- have a broader upper face, including wider eyes.
- have a shorter middle region of the face, including the cheeks and nose.
- have a broader or wider mouth and philtrum — the divot below the nose, above the top lip.
Furthermore, children with behavior problems, language level and repetitive behavior problems had additional distinct facial features. Knowing these characteristics may help identify children with autism at an earlier age and may help pinpoint the time in the womb that autism develops.
Social Simulation Program
A new program can help autistic people of all ages engage in socially appropriate conversations with others. The program is a video based interactive program which simulates a conversation with another person. The person with autism practices their social skills with the cyber person, is given options for appropriate questions, answers or statements which lead the conversation forward. The participants reported that they enjoyed initiating, maintaining , and concluding conversations on a variety of topics.
High Functioning Autism – not a medical term but a common description for someone who operates well in the general world but still has some social difficulties or tics. This person today might be described as a geek, a nerd or just someone who marches to the beat of a different drummer. In older times, they may have been called eccentric, odd or strange.
Asperger’s Syndrome – have some communication and social difficulties, may have repetitive behaviors, tics, or odd hand movements but they have normal and high intelligence. Life expectancy is normal. Children with Asperger’s have age appropriate language, no language delays, no language regression, but may use language differently, in a more precise and unusual way.
Rett Syndrome – almost exclusively found in girls, development is normal until about the age of 6-18 months; cognitive, motor, breathing difficulties, slowed head and brain growth, gait abnormalities, loss of purposeful use of hands, mental retardation, and seizures are common. Skills may be gained but then lost. Life expectancy is in the early 40’s.
Childhood Disintegrative Disorder – also known as Heller’s syndrome, a child develops normally until about the age of 3 or 4, then gradually experiences a severe loss of social, communication and other skills by the age of 10. This disorder is far less common than autism, occurs later than autism, and involves a more dramatic loss of skills.
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