AUTISM

Definition and causes:

Autism, or Autism Spectrum Disorder (ASD), is a developmental disorder which is usually identified around the age of two years. It is characterized by delays in social interaction, communication, and language. Individuals with autism may also develop certain repetitive behaviors and/or interests and have sensory sensitivities and difficulties in processing information. The symptoms and their severity can vary greatly from mild to severe, making autism a "spectrum" disorder. Diagnosis typically involves a comprehensive evaluation by healthcare professionals, which includes behavioral observations and interviews with parents or caregivers.

Current medical understanding suggests that autism is caused by a combination of genetic and environmental factors, most of which remain unidentified. While the specific cause of Autism Spectrum Disorder (ASD) is unknown in the majority of cases, genetic factors can be identified in roughly 3% to 5% of cases. Among these, Fragile X Syndrome is one of the more common single-gene causes. This syndrome can lead to developmental disabilities with features overlapping those observed in ASD, such as challenges in social interaction, communication, and behavior.

While the exact causes of ASD are complex and not fully understood, early detection and intervention can significantly improve outcomes for children experiencing these developmental delays. When a child is diagnosed with Autism Spectrum Disorder (ASD), the primary goal shifts from identifying the cause of their developmental disability to implementing effective treatment strategies that can help improve their developmental outcomes and quality of life. Interventions are tailored to the child’s individual needs, focusing on improving communication, social skills, and addressing any behavioral or cognitive difficulties, which support their overall development and well-being. At present there is no cure for autism, as the cause and cure of the condition are not fully known nor understood. Researchers continue to search for the answers.

Characteristics of ASD:

For most children with ASD, delays and problems in communication, speech and language acquisition, social interaction and behavior become noticeable as they approach their second birthday. In addition, other behavioral difficulties such as restricted and/or repetitive behaviors may develop. Children with ASD may experience slower cognitive development, leading to developmental delays compared to their typically developing peers. Some children may even undergo developmental regression, losing previously acquired skills such as the ability to talk. Naturally, witnessing such regression can be heartbreaking for parents.

As children grow, it is natural for parents to compare their child’s development with that of other children. We as pediatricians follow developmental milestones over time to ensure normal development. For instance, as children approach their second birthday, typically developing children at this age usually start mimicking conversational language, engaging actively in play with peers, and begin responding to social cues, such as smiling when smiled at or pointing when they see something interesting. They begin to use simple two word phrases like “more juice,” follow simple directions, and enjoy interactive games like peek-a-boo.

In contrast, a child with autism may experience developmental challenges and delays in these areas, but especially in communication and language acquisition. They may have trouble forming words and sentences, and some children with ASD may not speak at all. Many children with autism develop echolalia, where they repeat words or phrases they have heard, either immediately or later. While echolalia may indicate progress in learning how to produce speech sounds, unfortunately, it is not communicative speech that expresses desires, thoughts, feelings and interpersonal connection. This communication deficit often leads to significant frustration and relational isolation for them.

Not only does a child with autism have an inability to effectively communicate, they also typically have very little interest in interacting with others. A child with autism is typically socially isolated and relationally delayed. They may prefer to play alone and not reciprocate social gestures, such as waving goodbye. Instead of playing with their peers, they might focus intensely on specific objects or topics or they may display repetitive behaviors which seem to stimulate them, like lining up toys, flapping their arms or making repetitive non-communicative sounds. Again, these actions are in deference to social play and communication with others.

All these impairments can pose challenges in forming relationships and navigating everyday environments. Recognizing these signs early can help in accessing needed developmental evaluations and obtaining early intervention services that can support a child’s social and cognitive development. 

The Spectrum

Autism Spectrum Disorder (ASD) encompasses a wide range of symptoms and challenges. Some individuals may experience milder difficulties, such as having average or above-average intelligence and effective communication skills, but struggling with social skills. For example, they may find it hard to read social cues or understand others' perspectives. They might also have intense, narrow interests and engage in some repetitive behaviors, yet are generally able to manage daily life independently. This level of impairment was previously referred to as Asperger's Syndrome.

For those with more moderate symptoms, there can be some speech delays and difficulty with social interactions, such as reading nonverbal cues or making friends. They often display clear repetitive behaviors and focused interests and require some level of support to manage daily activities.

At the severe end, individuals with ASD may have profound communication challenges, both verbal and nonverbal, alongside severe developmental delays, intense repetitive behaviors and severe cognitive disabilities. Some children with severe ASD may also display aggressive actions toward others. Individuals with severe ASD generally need extensive support for daily living. Tailoring support and interventions to each person’s unique needs is important for their development and well-being.

Though the severity of symptoms varies widely, certain key characteristics are commonly observed in children with ASD.

Impaired social communication and interaction:

• Difficulty initiating or sustaining conversations. Speech delay.
• Lack of or limited eye contact and facial expressions.
• Challenges with nonverbal communication, such as gestures or body language.
• Difficulty interpreting social cues, emotions, and understanding others’ perspectives.
• Repetitive Speech (Echolalia): Repeating words, phrases, or commercials heard on TV out of context. Mimicking the speech of others instead of engaging in meaningful conversation that expresses needs, feelings and emotional connection to others. 
  

Abnormal behavior with restricted and/or repetitive patterns of behavior:

• Repetitive movements or mannerisms (e.g., hand-flapping, twirling objects, rocking their body back and forth, spinning in circles, body twisting or unusual positions, moving fingers rapidly in front of their eyes).
• Rigidity in routines and resistance to change. Examples are insisting on following the same schedule or routine each day. Arranging objects in a very specific way. Fixation on parts of objects, such as the wheels on a toy car. Requiring specific routes or rituals when moving from place to place. Difficulty transitioning from one activity to another.
• Highly narrow interests or preoccupations. Examples are: extreme focus on specific topics, such as train schedules, weather patterns, or a particular TV show. Collecting objects or engaging in hobbies with an intensity that seems unusual for their age.
• Over or under sensitivity to sensory experiences and stimuli. Strong reactions to changes in their environment or routine (e.g., loud noises, specific textures). Children with severe autism may scream and react violently to stimuli which unaffected children routinely tolerate.
• Excessive interest in sensory experiences, like watching objects spin or feeling different textures.
• Self-injurious Behaviors: biting themselves, head banging, skin picking.

These behaviors can vary greatly in severity and presentation from one individual with ASD to another. Understanding these characteristics can help in identifying the needs of children with ASD and developing personalized interventions that support their development and well-being.

Diagnosis:

Accurate diagnosis of autism in young children, especially around the age of two years, is important for timely intervention. The process involves comprehensive evaluation by a multidisciplinary team of healthcare professionals, which may include pediatricians, developmental pediatricians, child psychiatrists, child psychologists, developmental specialists and therapists.

The diagnosis is based on the Diagnostic and Statistical Manual number 5 (DSMV) criteria, which includes the following:

1. Persistent Deficits in Social Communication and Interaction across multiple contexts:

• Impairment in social-emotional reciprocity, marked by reduced sharing of emotions or interests and impaired back and forth conversations.
• Deficits in nonverbal communication skills and difficulty developing, maintaining, or understanding relationships. (e.g., poorly integrated verbal and nonverbal communication, abnormalities in eye contact or body language).
• Deficits in developing, maintaining, and understanding relationships (e.g. difficulty adjusting behavior to suit various social contexts).

2. Restricted, Repetitive Patterns of Behavior:

• Stereotyped or repetitive behaviors, movements, or speech patterns.
• Excessive adherence to routines or resistance to change.
• Highly restricted, fixated interests that are abnormal in intensity or focus.
• Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment.

For a diagnosis of ASD to be made, these symptoms must be present in the early developmental period of life and the symptoms must cause clinically significant impairment in social, occupational, or other important areas of current functioning. These disturbances should not better explained by intellectual disability or global developmental delay.

Here in Arkansas, autism evaluations are conducted at the Dennis Developmental Center at Arkansas Children’s Hospital. There is often a significant wait time of up to one year for referrals to this clinic for a possible ASD evaluation. We typically begin therapy for ASD before the official diagnosis of autism is made. 

Red Flag Warnings, Early Identification and Intervention:

Recognizing the signs of autism spectrum disorder as early as possible can lead to timely intervention, resulting in improved outcomes for children. Parents and caregivers should be vigilant for the following red flag symptoms among young children.

These include:

1. Lack of appropriate social smile by 6 months of age.
2. No babbling or pointing by 12 months.
3. Absence of single words by 16 months or two-word spontaneous phrases by 24 months.
4. Loss of any language or social skills at any age.

If any of these concerns are observed, it is important to promptly consult us for further evaluation into the possibility of ASD.

Behavioral interventions and therapies to treat ASD:

1. Speech-Language Therapy (ST): Speech therapy aims to improve communication skills, such as expressive and receptive language, verbal fluency, and pragmatic language use. It can address speech articulation, nonverbal communication, and understanding of social cues. ST should be started as soon as possible upon even suspecting a diagnosis of a speech delay or autism. This is a very important therapy for all kids with ASD.
2. Occupational Therapy (OT): OT focuses on enhancing everyday skills while addressing sensory processing challenges often associated with autism. Through structured activities, children develop fine motor skills, self-care abilities, coordination, and sensory integration. OT should be started as soon as possible upon suspecting the diagnosis of autism. Like ST, OT is a very important therapy for all kids with ASD.
3. Applied Behavior Analysis (ABA): ABA is a highly structured, evidence-based therapy that focuses on shaping positive behaviors and reducing challenging ones. It involves breaking down skills into smaller, manageable steps and using positive reinforcement techniques to encourage desired behavior. ABA aims to improve social, communication and daily living skills. It is an important therapy for kids with ASD.
4. Social Skills Training:  Social skills therapy assists children in developing social interactions, emotional regulation, and understanding social cues. Individuals with autism learn appropriate social behavior, making and maintaining friendships, and navigating social contexts.

Early diagnosis, ideally by age two, is important for starting interventions. 

Educational and Institutional Treatment of ASD:

Educational and institutional treatment of autism is important and is tailored to address the diverse needs of individuals on the spectrum, often beginning with early interventions such as therapeutic daycare programs. These specialized daycares offer structured environments where therapies like speech therapy and occupational therapy are integrated into daily activities to promote social, communication, and motor skills. Trained professionals work closely with children to develop individualized plans that target key developmental areas, providing substantial support in a setting that is both nurturing and educational. This early intervention is very important in helping children with ASD build foundational skills that will aid them as they transition into more traditional educational settings.

For older children with autism in mainstream schools, integrating therapies into daily routines is important for supporting students with autism. Schools can accommodate these students by providing access to special education resources and individualized education plans (IEPs), which include specific goals tailored to each student's unique needs.

IEP

The Individuals with Disabilities Education Act (IDEA), established in 1975 and amended in 1990, ensures that students with disabilities receive a free and appropriate public education. An Individualized Education Program (IEP) is a personalized educational plan for students qualifying under IDEA's 14 disability categories, including autism, which must significantly impact a child's educational performance for the IEP to be implemented.

Creating an IEP involves collaboration among educators, parents, and specialists, starting with an assessment of the child’s academic and functional skills to understand how autism affects their progress. The IEP includes measurable goals for improving communication, social skills, controlling repetitive behaviors and aggression and educational goals. For example, and IEP might include speech therapy, occupational therapy, ABA therapy and social skills training as well as resource room support, specialized instruction, tutoring, and behavior interventions.

These plans often involve provide therapies such as speech, occupational, and behavioral therapy, which are conducted during school hours. Educators are encouraged to foster an inclusive environment by using teaching strategies that cater to diverse learning styles, such as visual aids and hands-on activities. By promoting acceptance and understanding among peers, schools can create a supportive community that facilitates the academic and social development of students with autism.

Pharmacological Interventions:

Medication may be prescribed in certain cases to manage specific behavioral symptoms associated with autism, including hyperactivity, aggression, anxiety, obsessive-compulsive or attention-related difficulties (ADHD symptoms). It is important to consult us to discuss the potential benefits, risks, and suitability of medications for individual patients. Behavioral pediatricians and psychiatrists also prescribe medications for children with ASD. Most of these pharmacologic interventions are made after the age of five years or older.

Additional Support and Resources:

Apart from formal therapies listed above, there are support groups, counseling services, and other community resources that can provide valuable assistance to families of children with ASD. These networks offer emotional support, information sharing, and practical advice, ensuring caregivers have access to a supportive community.

TEFRA

The diagnosis and treatment of Autism Spectrum Disorder (ASD) can be very expensive. Fortunately, in the State of Arkansas, there is a Medicaid program known as the Tax Equity and Fiscal Responsibility Act (TEFRA) that can help. TEFRA is designed to financially assist families with children under 19 years of age who have disabilities like ASD and require care at home instead of in an institution. This program helps cover the costs of necessary services for those eligible children. Typically, a diagnosis of ASD will meet the eligibility requirements for TEFRA.

To apply for the TEFRA program, you need to complete a TEFRA application packet and submit it to your local Department of Human Services (DHS) county office. This packet contains all the forms and information required to determine your child’s eligibility and is available online and at the county DHS office.

Nontraditional treatment of ASD:

Because the cause and cure of Autism Spectrum Disorder (ASD) are largely unknown, traditional treatments such as speech therapy, occupational therapy, and ABA (Applied Behavior Analysis) therapy often fall well short of fully normalizing the lives of individuals affected by ASD. Understandably, many parents turn to nontraditional treatments in their urgent efforts to support their child’s development. They are desperate to just try something. While we do not necessarily recommend the following treatments, we provide this list to assist parents seeking additional options and to dispel common misconceptions about their effectiveness and to warn of potential dangers.

Nontraditional ASD treatments may include:

Music Therapy.  Origin: Music therapy has historical roots tracing back to indigenous cultures that used music for healing purposes, but it gained professional recognition in the mid-20th century. Utility: Music therapy involves using musical activities (such as playing instruments, singing, songwriting, and listening to music) to improve social skills, communication, and emotional regulation in individuals with ASD. The rhythmic and repetitive nature of music may help in reducing anxiety and enhancing the ability to focus in some patients. This therapy does no harm.

Equine Therapy (Hippotherapy).  Origin: The use of horses for therapeutic purposes dates back to ancient Greece, but modern hippotherapy began in the 1960s. Utility: Equine therapy involves guided horse riding activities to improve coordination, balance, and motor skills. An emotional connection with the horse and child may also enhance social interaction, empathy, and self-confidence. This therapy has a slight risk of severe injury from riding a horse, a strong large animal. However, it seems that injuries are quite rare. Engage in this therapy at your own risk.

Art Therapy.  Origin: Art therapy as a formal practice began in the mid20th century, combining aspects of art with psychological theories. Utility: Art therapy uses creative activities, like painting, drawing, and sculpting, to provide a non-verbal outlet for expression. It helps in improving fine motor skills, reducing stress, and enhancing emotional expression and communication. This therapy does no harm.

Sensory Integration Therapy.  Origin: This therapy was developed by occupational therapist A. Jean Ayres in the 1970s, focusing on how the brain processes sensory information. Utility: Sensory integration therapy aims to help children with ASD who have sensory processing issues. The therapy involves structured activities designed to administer and regulate certain sensory inputs, helping children improve their responses to different sensory experiences and thereby enhance their daily functioning. The experiences which are provided in this therapy help to desensitize the child with ASD to certain sensory inputs. This therapy has mixed results.

Mind-Body Practices (Yoga, Tai Chi). Origin: These practices have ancient origins in Eastern spiritual and physical disciplines, with yoga originating in ancient India and Tai Chi in ancient China. Utility: Mind-body practices focus on physical postures, breathing exercises, and meditation to enhance body awareness, reduce anxiety, and improve focus and self-regulation. These practices are claimed to be useful for some children with ASD by promoting relaxation and improving physical coordination. This therapy has mixed results.

Chelation Therapy.  Origin: The use of chelation therapy for autism began in the early 2000s, driven by the unfounded belief that mercury from vaccines linked to autism spectrum disorders (ASD). Thimerosal, a preservative containing ethylmercury, was used in some vaccines but was removed from those recommended for children under 6 in the U.S. around 1999 as a precaution, despite no evidence linking it to autism. This removal followed recommendations from the American Academy of Pediatrics, the U.S. Public Health Service, and the FDA. Our clinic has not used thimerosal in vaccines for the past 24 years.

Utility: Chelation therapy aims to remove heavy metals from the body, mistakenly thought to come from vaccines. The procedure is dangerous and can cause serious side effects, including kidney damage and mineral deficiencies, with some cases resulting in fatalities. Extensive research shows no connection between autism and heavy metal toxicity, leading major medical organizations, including the American Academy of Pediatrics and CDC, to discourage its use for autism. Chelation therapy is unsafe and not recommended.

Avoidance of vaccines, especially the MMR (measles, mumps and rubella vaccine):  Origin: A flawed paper linking MMR vaccination with autism was published in The Lancet in 1998 by Andrew Wakefield, MD, a former surgeon and researcher. Wakefield was struck off the medical register and was banned from practicing medicine in the U.K. due to his involvement as the primary author of the study. Wakefield falsely claimed a link between the MMR vaccine and autism. The resulting publicity contributed to a harmful decline in vaccination rates and outbreaks of measles worldwide. Wakefield is now known for his anti-vaccination activism.

Utility: Avoiding vaccines harms children with ASD by withholding necessary immunizations that prevent diseases capable of sickening and killing children. Because vaccines have been proven not to cause ASD, we cannot support withholding vaccines from children with ASD. Please see the section on autism and vaccines page 155 for more detailed information on the vaccine hysteria associated with Wakefield’s flawed research.

Hyperbaric Oxygen Therapy (HBOT). HBOT involves breathing pure oxygen in a pressurized chamber, with the belief it may improve neurological function. While some anecdotal reports claim improvement, controlled studies have not shown significant benefits. HBOT has rarely severely injured children. We do not recommend this therapy for ASD.

Dietary interventions for Autism Spectrum Disorder (ASD) involve modifying a person’s diet in an attempt to improve symptoms. Parents and caregivers often pursue these interventions, hypothesizing that certain dietary components might contribute to or worsen autism related symptoms. Although some parents report benefits, scientific evidence supporting these interventions is very limited. Origins: These dietary interventions emerge from both historical dietary practices and modern nutritional science. However, these interventions are most often promoted through personal communication among families with children with ASD and through ASD-focused alternative medicine websites. Evidence for the use of these diets is mainly lacking.

-Gluten-free and/or casein-free diets:  Some parents of children with Autism Spectrum Disorder (ASD) choose to implement a gluten-free and casein-free (GFCF) diet, believing that removing these proteins might help reduce symptoms. Gluten is a protein found in grains such as wheat, barley, and rye, and casein is a protein found in dairy products. The GFCF diet involves the elimination of all foods containing gluten and casein, which means avoiding products like bread and pasta made from wheat and avoiding dairy products entirely. Instead, individuals on this diet can incorporate gluten-free grains such as rice and quinoa, and use milk alternatives like almond, coconut, or soy milk.

Despite its wide popularity, scientific evidence supporting the effectiveness of GFCF diets in managing ASD symptoms is very limited. From a medical perspective, gluten-free diets are recommended only for individuals diagnosed with Celiac disease or gluten sensitivity. Similarly, dairy products should only be eliminated in cases of confirmed milk allergy or lactose intolerance.

Restricting a child’s diet without a medical diagnosis can lead to unnecessary nutritional deficiencies and is generally not recommended. It’s important for parents to consult us before making significant dietary changes to ensure the health and well-being of their children.

-Carbohydrate Elimination Diet:  This diet focuses on the idea that undigested carbohydrates can cause harmful bacterial overgrowth in the gut and exacerbate symptoms of ASD. The diet restricts complex carbohydrates and promotes easily digestible carbohydrates to ensure that nutrients are absorbed properly. In this diet meat, vegetables, fruits, nuts, homemade yogurt are provided and all grains, sugars, and starchy vegetables are excluded. Again, there is no evidence that this diet is effective, thus we do not recommend it.

-Elimination Diets:  It is thought by some that certain foods or additives (such as artificial colors, preservatives, and specific allergens like soy and corn) might trigger adverse reactions in some children with ASD. Again, there is no medical evidence for this diet, and we do not recommend it.

-Ketogenic Diet: The ketogenic diet is a high-fat, low-carbohydrate diet traditionally used to control epilepsy through the production of ketones in the body due to a low carbohydrate intake. Some theories suggest it might improve brain function and behavior in children with ASD through changes in energy metabolism and neurotransmitter activity. This is a very intrusive and difficult diet which we do not recommend for children with ASD.

Another diet like the ketogenic diet is the High-Fat Foods Diet.  This diet emphasizes eating fatty meats, avocados, butter, and oils and minimizing carbohydrates, with limited fruits and no sugar, and very low or no grains. So, it is like the ketogenic diet. We do not recommend this diet as well.

In summary, although there are many claims that dietary interventions may provide some benefit for children with ASD, evidence for dietary intervention is mainly lacking. The origin of the elimination diets discussed above is the treatment of various medical conditions like Celiac Disease, milk allergy, lactose intolerance, and intractable epilepsy. Desperate parents seek to implement any known therapy in an attempt to help their child normalize development. Although we do understand this desperation, we do not recommend implementing an unproven dietary strategy in the treatment of a child with ASD.

One aspect of the dietary treatment of children with ASD which is not controversial is the tendency of those children to become constipated. Children with autism often experience constipation. A healthy diet rich in fiber from fruits and vegetables can help prevent constipation. Yogurt is also beneficial. However, many children with autism have sensory issues and may be averse to the texture of certain healthy foods, leading to constipation. If constipation occurs, it can be treated with Miralax. For more detailed information on managing constipation, please refer to the constipation section.

What dietary interventions do we recommend for ASD?

Dietary Supplements with Possible Medical Benefits:

1. Probiotics  are believed to support gut health and possibly alleviate gastrointestinal issues common in children with ASD. This supplement is often administered through naturally probiotic-rich foods like yogurt and fermented products or by store bought probiotics. Yogurt and probiotics are beneficial and promote good health for all people. A good probiotic is Culturelle for Kids.
2. Omega-3 Fatty Acids are thought to support brain health and improve behavioral outcomes. This supplement is primarily supplied as fish oil or by eating cold water ocean fish such as salmon. Omega-3 Fatty Acids are beneficial and promote good health for all people. See our nutrition section page 188 for more information.
3. Vitamins:  Vitamins D, B6 (pyridoxine), B9 (folate), B12 (cobalamin), and Magnesium: Supplementation with certain vitamins and supplements in the treatment of ASD is based on the hypothesis that deficiencies in these nutrients might correlate with ASD symptoms. Evidence is lacking on the use of these supplements to improve ASD symptoms. However, a multivitamin given each day is not dangerous to kids and may well help their overall well being.
4. A well balanced diet with meat, fruit, vegetables and carbohydrates.