By Dr. Sharmila Patil

Autism Spectrum Disorder (ASD)

Autism Spectrum Disorder (ASD) is a neurological and developmental disorder that affects how children interact with others, communicate, learn, and behave. Although autism can be diagnosed at any age, it is described as a “developmental disorder” because symptoms generally appear in the first 2 years of life. Autism, or autism spectrum disorder (ASD), refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviours, speech, and nonverbal communication.

Children with ASD may demonstrate absent, reduced, or atypical social interest, manifested by rejection of others, passivity, or inappropriate approaches that seem aggressive and disruptive. In young children, lack of shared, age-appropriate flexible pretend and symbolic play is observed. Autistic kids are often insistent on playing by very fixed rules. Kids with ASD may behave, communicate, interact, and learn in ways that are different from other children. Their physical appearance is mostly normal. Few ASD kids with syndromes have dysmorphic features. The abilities of children with ASD can vary significantly. For example, some kids with ASD may have advanced conversation skills whereas others may be nonverbal. Some children with ASD need a lot of help in their daily lives; others can work and live with little to no support.

ASD begins before the age of 3 years and can last throughout a person’s life, although symptoms may improve over time. Some children show ASD symptoms within the first 12 months of life. In others, symptoms may not show up until 24 months of age or later. Some children with ASD gain new skills and meet developmental milestones until around 18 to 24 months of age, and then they stop gaining new skills or lose the skills they once had. As children with ASD become adolescents and young adults, they may have difficulties developing and maintaining friendships, communicating with peers and adults, or understanding what behaviours are expected in school or on the job. They may come to the attention of healthcare providers because they also have conditions such as anxiety, depression, or attention-deficit/hyperactivity disorder, which occur more often in children with ASD than in kids without ASD. The abilities and needs of autistic people vary and can evolve over time. While some Autistic kids live independently, others have severe disabilities and require life-long care and support. Autism often has an impact on education and employment opportunities. In addition, the demands on families providing care and support can be significant. Social attitudes and the level of support provided by local and national authorities are important factors determining the quality of life with autism.

Causes

As mentioned above Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. Some people with ASD have a known difference, such as a genetic condition. Other causes are not yet known. Scientists believe there are multiple causes of ASD those acts together to change the most common ways people develop. We still have much to learn about these causes and how they impact people with ASD.

Autism spectrum disorder has no single known cause. Given the complexity of the disorder, and the fact that the symptoms and the severity vary, there are likely to be many causes. Both genetics and environment may play a role.

Genetics and Epigenetic:

Several different genes appear to be involved in autism spectrum disorder. For some children, autism spectrum disorder can be associated with a genetic disorder, such as Rett syndrome or fragile X syndrome. For other children, genetic changes (mutations) may increase the risk of autism spectrum disorder. Still other genes may affect brain development or the way that brain cells communicate, or they may determine the severity of symptoms. Some genetic mutations seem to be inherited, while others occur spontaneously.

Environmental factors:

Researchers are currently exploring whether factors such as viral infections, medications or complications during pregnancy, or air pollutants play a role in triggering autism spectrum disorder.

The link between vaccines and ASD

Available epidemiological data concludes that there is no evidence of a causal association between measles, mumps and rubella vaccine, and autism. Previous studies suggesting a causal link were found to be filled with methodological flaws. There is also no evidence to suggest that any other childhood vaccine may increase the risk of autism.

Nobody knows what causes autism, or if it has a cause. It can affect people in the same family. So it may sometimes be passed on to a child by their parents.

So, to summarise, Autism is not caused by:
  • bad parenting
  • vaccines, such as the MMR vaccine
  • diet
  • an infection you can spread to other people

Other conditions

People with autism often have other conditions, such as
  • Attention deficit hyperactivity disorder (ADHD)
  • Learning difficulty
  • Anxiety
  • Depression
  • Epilepsy

Intelligence

Some autistic people have average or above average intelligence. Some autistic people have a learning disability. This means they may find it hard to look after themselves and need help with daily life.

Epidemiology

It is estimated that worldwide about 1 child in 100 children has autism .This estimate represents an average figure, and reported prevalence varies substantially across studies. Some well-controlled studies have, however, reported figures that are substantially higher. The prevalence of autism in many low and middle income countries is unknown.

Symptoms

Some children show signs of autism spectrum disorder in early infancy, such as reduced eye contact, lack of response to their name or indifference to caregivers. Other children may develop normally for the first few months or years of life, but then suddenly become withdrawn or aggressive or lose language skills they’ve already acquired. Signs usually are seen by age 2 years.

Each child with autism spectrum disorder is likely to have a unique pattern of behaviour and level of severity — from low functioning to high functioning.Some children with autism spectrum disorder have difficulty learning, and some have signs of lower than normal intelligence. Other children with the disorder have normal to high intelligence — they learn quickly, yet have trouble communicating and applying what they know in everyday life and adjusting to social situations.

Because of the unique mixture of symptoms in each child, the severity can sometimes be difficult to determine. It’s generally based on the level of impairments and how they impact the ability to function.

Below are some common signs shown by people who have autism spectrum disorder.

Social communication and interaction

A child with autism spectrum disorder may have problems with social interaction and communication skills, including any of these signs:
  • Fails to respond to his or her name or appears not to hear you at times
  • Resists cuddling and holding, and seems to prefer playing alone, retreating into his or her own world
  • Has poor eye contact and lacks facial expression
  • Doesn’t speak or has delayed speech, or loses previous ability to say words or sentences
  • Can’t start a conversation or keep one going, or only starts one to make requests or label items
  • Speaks with an abnormal tone or rhythm and may use a singsong voice or robot-like speech
  • Repeats words or phrases verbatim, but doesn’t understand how to use them
  • Doesn’t appear to understand simple questions or directions
  • Doesn’t express emotions or feelings and appears unaware of others’ feelings
  • Doesn’t point at or bring objects to share interest
  • Inappropriately approaches a social interaction by being passive, aggressive or disruptive
  • Has difficulty recognizing nonverbal cues, such as interpreting other people’s facial expressions, body postures or tone of voice

Patterns of behaviour

  • Performs repetitive movements, such as rocking, spinning or hand flapping
  • Performs activities that could cause self-harm, such as biting or head-banging
  • Develops specific routines or rituals and becomes disturbed at the slightest change
  • Has problems with coordination or has odd movement patterns, such as clumsiness or walking on toes, and has odd, stiff or exaggerated body language
  • Is fascinated by details of an object, such as the spinning wheels of a toy car, but doesn’t understand the overall purpose or function of the object
  • Is unusually sensitive to light, sound or touch, yet may be indifferent to pain or temperature
  • Doesn’t engage in imitative or make-believe play
  • Fixates on an object or activity with abnormal intensity or focus
  • Has specific food preferences, such as eating only a few foods, or refusing foods with a certain texture

As they mature, some children with autism spectrum disorder become more engaged with others and show fewer disturbances in behavior. Some, usually those with the least severe problems, eventually may lead normal or near-normal lives. Others, however, continue to have difficulty with language or social skills, and the teen years can bring worse behavioural and emotional problems.

When to see a doctor

Babies develop at their own pace, and many don’t follow exact timelines found in some parenting books. But children with autism spectrum disorder usually show some signs of delayed development before age 2 years.

If you’re concerned about your child’s development or you suspect that your child may have autism spectrum disorder, discuss your concerns with your doctor. The symptoms associated with the disorder can also be linked with other developmental disorders.

Signs of autism spectrum disorder often appear early in development when there are obvious delays in language skills and social interactions. Your doctor may recommend developmental tests to identify if your child has delays in cognitive, language and social skills, if your child:

  • Doesn’t respond with a smile or happy expression by 6 months
  • Doesn’t mimic sounds or facial expressions by 9 months
  • Doesn’t babble or coo by 12 months
  • Doesn’t gesture — such as point or wave — by 14 months
  • Doesn’t say single words by 16 months
  • Doesn’t play “make-believe” or pretend by 18 months
  • Doesn’t say two-word phrases by 24 months
  • Loses language skills

Risk factors

The number of children diagnosed with autism spectrum disorder is rising. It’s not clear whether this is due to better detection and reporting, a real increase in the number of cases, or both.

Autism spectrum disorder affects children of all races and nationalities, but certain factors increase a child’s risk. These may include:

  • Your child’s sex. Boys are about four times more likely to develop autism spectrum disorder than girls are.
  • Family history. Families who have one child with autism spectrum disorder have an increased risk of having another child with the disorder. It’s also not uncommon for parents or relatives of a child with autism spectrum disorder to have minor problems with social or communication skills themselves or to engage in certain behaviours typical of the disorder.
  • Other disorders. Children with certain medical conditions have a higher than normal risk of autism spectrum disorder or autism-like symptoms. Examples include Fragile X syndrome, an inherited disorder that causes intellectual problems. Tuberous sclerosis, a condition in which benign tumours develop in the brain. And Rett syndrome, a genetic condition occurring almost exclusively in girls, which causes slowing of head growth, intellectual disability and loss of purposeful hand use.
  • Extremely preterm babies. Babies born before 26 weeks of gestation may have a greater risk of autism spectrum disorder
  • Parents’ ages. There may be a connection between children born to older parents and autism spectrum disorder, but more research is necessary to establish this link.

Complications

Problems with social interactions, communication and behaviour can lead to:
  • Problems in school and with successful learning
  • Employment problems
  • Inability to live independently
  • Social isolation
  • Stress within the family
  • Victimization and being bullied

Prevention

There’s no way to prevent autism spectrum disorder, but there are treatment options. Early diagnosis and intervention is the most helpful method, and can improve behaviour skills and language development. However, intervention is helpful at any age. Though children usually don’t outgrow autism spectrum disorder symptoms, they may learn to function well with it.

Treatment

While there is no “cure” for autism, there are several effective interventions that can improve a child’s functioning:

  • Applied behavioural analysis:It involves systematic study of the child’s functional challenges, which is used to create a structured behavioural plan for improving their adaptive skills and decreasing inappropriate behaviour.
  • Social skills training:Done in groups or individual settings, this intervention helps children with autism improve their ability to navigate social situations.
  • Speech & language therapy:It can improve the child’s speech patterns and understanding of language.
  • Occupational therapy:This addresses adaptive skills, deficits with activities of daily living, as well as problems with handwriting.
  • Parent management training:Parents learn effective ways of responding to problematic behaviour and encouraging appropriate behaviour in their child. Parent support groups help parents cope with the stress of raising a child with autism.
  • Special education services:Under an Individual Education Plan provided by their school, which accommodates for their social communication deficits, restricted interests, and repetitive behaviours, children with autism can achieve their fullest potential academically. This includes special day classes for very young children to address language, social, and life skills
  • Treating co-occurring conditions:Children with autism experience insomnia, anxiety, and depression more often than peers without autism. They also often have ADHD. Children with autism may have an intellectual disability and these needs to be addressed. The impact of these conditions can be reduced with the proper services, which include all of the above, in addition psychotherapy and/or medication treatment.
  • Medication:A child psychiatrist can evaluate for co-morbid depression, anxiety, and impulsivity. Appropriate medications can possibly be helpful. For example, autism-related irritability can be reduced by medications such as antipsychotics, but they should be used wisely and judiciously.

Several complementary and alternative interventions involving special diets and supplements have been tried over the years by parents/caregivers seeking ways to help their child with autism function better. Till date, compelling evidence has not been found to clearly recommend any such specific interventions. Research into these types of interventions continues, and parents/caregivers interested in them should discuss them with their child’s treating developmental paediatrician.

Tips For Parents

  • Learn as much as possible about autism spectrum disorder
  • Provide a consistent structure and routine
  • Connect with other parents of children with autism
  • Seek professional help for specific concerns
  • Take time for yourself and other family members
Having a child with autism affects the whole family. It can be stressful, time-consuming and expensive. Paying attention to the physical and emotional health of the whole family is important. Many national and local advocacy organizations provide information, resources and support to individuals with autism spectrum disorder and their families.

Inclusion of autistic kids in schools

Inclusion in a general classroom is a positive option for children with autism. Inclusion has often been a highly debated topic, and if schools are prepared, students with autism should be able to be in inclusive settings. Most students on the autism spectrum are included within general classrooms, because they have the right to be taught in an inclusive classroom. Inclusion can benefit all children, including peers within the classroom. Inclusion of students with autism in the general classroom can minimize stigma against autism while students learn how to communicate appropriately with one another. Having a student with autism in a general classroom also reduces negativity associated with autism, and children will learn how to work with one another. Inclusive classroom settings teach students to build relationships with all peers. Teachers already practise beneficial differentiation techniques for all students, and it should be continued. For teachers to feel comfortable with successfully integrating a student with autism in a general classroom, it would be beneficial for the teacher and the family to meet prior to school starting. Teachers can consider teaching to the students’ interests and abilities so that a student with autism is successful in an inclusive classroom. Teachers should ensure that they have some education on autism so that they can successfully integrate a child with special needs in the classroom setting, because a more knowledgeable teacher is more comfortable with inclusion. Inclusion can benefit more than just a child with autism and should be an option for that child. Inclusion means allowing child to learn in social environments together. Children with autism who are in inclusive classrooms show better cognitive adaptive functioning.

Dr. Sharmila Patil

Consultant, Developmental Paediatrics