FAQ’s

Estimated prevalence 1.12 (0.74-1.68) [INCLEN study, unpublished data]. Incidence of Autism spectrum disorder in males 1:42 whereas in females it about 1:189. This makes that every 1 in 68 children are diagnosed with autism spectrum disorder

One can think of Autism when there is absence of:

• Response to own name by 8 months
• Babbling by 12 months
• Gesturing (e.g., pointing, waving bye-bye) by 12 months
• Single words by 16 months
• Two-word spontaneous (not just echolalia) phrases by 24 months
• Loss of any language or social skills at any age

• Persistent deficiencies in social communication and interaction across settings
• Restricted and repetitive behaviours, interests, or activities
• Symptoms must be present early in childhood
• Symptoms limit and impair daily functioning

• Delayed social smile
• Impairment in eye-to-eye contact, facial expressions, body postures and gestures
• Lack of spontaneous sharing of enjoyment and interests with other people
• Poor social interaction

• Body rocking, finger twirling, hand flapping, spinning and tiptoe walking
• Fascination with certain numbers, letters, schedules, animate or inanimate objects, especially parts of a toy
• Inflexible adherence to non-functional routines or rituals
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• Visual: Seeing things from a particular angle
• Auditory: pretends to be deaf, clapping hand over their ears
• Olfactory: Sniffing objects
• Perceptual: Refusing to eat food with certain textures or tastes, mouthing of objects, compulsive touching of certain objects or textures, diminished response to pain, increased sensitivity to touch like the feel of running water, adversity to bathing
• Mood may be inappropriate to the situation or circumstances
• Uncontrollable crying or laughing
• May be oblivious to hazards or may have excessive fear of harmless objects
•  

• Obsessive compulsive behaviour, intellectual disability, epilepsy, vision & hearing problems, behavioural disorders, feeding disturbances, pica, sleep disturbances, abnormalities of mood, sensory deviance and hyperactivity (ADHD).

• 40 to 80% of children with autism spectrum disorder have sleep problems like difficulty going off to sleep, frequent awakenings and decrease in total sleep time.

• The proposed mechanisms (still a mystery) include:

  • Abnormal connectivity amongst the brain cells called neurons
  • Defect in brain formation in a foetus at the microscopic level
  • Neurotransmitter imbalance
  • Abnormal mirror neurons
  • Environmental factors like exposure to toxins, radiations etc.

• Autism is entirely a clinical diagnosis. Initially DSM criteria (INCLEN: INAC-ASD) followed by CARS (Childhood Autism Severity Scale) to ascertain the severity.

• Autistic children with abnormal head size (small/large), positive family history or dysmorphic features should have genetic consultation.

• Paediatrician or preferably a paediatric neurologist

• Family, Paediatric Neurologist, Clinical Psychologist, Geneticist, Special educator, physical, occupational and speech therapist

• It is known to have multi factorial inheritance. Risk in siblings is around 7% if the affected child is a girl and 4% if the affected child is a boy. If a second child has Autism, risk increases to 25–35%. Almost 2–3% of families have more than one affected children.

• • Use visuals, avoid long strings of verbal instruction
  • Encourage development of child’s special talents
  • Use child’s fixations to motivate school work
  • Use concrete, visual methods to teach number concepts
  • Protect child from sounds that hurt his/her ears
  • Place child near a window and avoid using fluorescent lights
  • Interact with the child while he/she is swinging or rolled in a mat
  • Don’t ask children to look and listen at the same time, Teach with tactile learning materials (e.g., sandpaper alphabet), Use printed words and pictures on a flash card.

• • Children with mental retardation do not form a uniform group. The nature of mental retardation, its severity, and the   child's ability to cope with the problem all influence how this disability is visible to an observer. However there are some specific signs and symptoms which can help in early identification of delayed development in a child (WHO, 1989):

    • The person does not learn new activities as easily as other people,
    • The child may have difficulty sitting up, using his or her hands, or moving from place to place,
    • The person may be slow to respond to what others say and to what happens around him or her,
    • The person may not understand as well as other people what he or she sees, hears, touches, smells, and tastes,
    • The person may not be able to express his or her needs or feelings in a way that other people understand,
    • The person may not be able to think clearly. For example, the person may not be able to compare people or things.
    • The person may not be able to understand the difference between here or there, now or later, or more or less.
    • The person may not know the meaning of where, when, what, how much, and why,
    • The person may remember only for a short time what he or she has been told or what has happened in the past. Or the person may not remember these things at all,
    • The person may or may not be able to pay attention to one person or to one activity for long,
    • The person may have difficulty controlling his or her feelings,
    • The person may have difficulty making decisions. He or she may not know what to do, to say, to wear, and so on.

• • Early Detection depends upon the severity and the nature of mental retardation

    1. Many genetic abnormalities can be identified before birth. Some of the methods of identifying include: amniocentesis, fetoscopy, chronic villus sampling, sonography, and blood screening tests.
    2. Some conditions like Down's syndrome, microcephaly (small head circumference) can be identified at birth.
    3. After birth if the growth and the developmental milestones are delayed and there is presence of neurological signs and symptoms, identification of mental retardation can be made with fair degree of certainty within one year.
    4. In case having mild delays of development, assessment of intellectual functioning becomes crucial tool for diagnosis which can be performed with reliability by the age of 3 to 5 years.

• • All children with mental retardation are not alike. Each individual with mental retardation has unique problems based on the severity of condition and the ability to cope up with the problem. However, children with mental retardation generally have problems in:

    1. motor coordination,
    2. carrying out day to day activities like toileting, bathing etc.,
    3. Reading, writing and arithmetic.
    4. communication,
    5. behaviour, and
    6. Socialization.
    7. Some mentally retarded individuals may also have sensory defects such as visual impairments, hearing loss or other problems like epilepsy / fits, etc.

• • The brain coordinates and directs various body functions. Each component of the brain controls some aspect of an individual's behavior and affects the understanding of the world around him or her. The brain not only controls involuntary movements of organs like heart, kidney but also initiate voluntary movements like walking, running and also higher order functions like thinking, reasoning, memory, etc. The abnormal development functioning of any part of brain thus makes an individual less able to adjust to the environment and give rise to various disorders, one of which is mental retardation.

• • Mental retardation is an irreversible condition. The damage caused to the brain is permanent. With available knowledge and techniques for management and treatment of mental retardation, no drugs have been found to repair the damage occurred to the brain.

• • Data reported from various clinics in the country show that in 60% of the cases identified as mentally retarded, causes can be attributed to generic disorders. Consanguineous marriages i.e. marriage between uncle-niece, nephew-aunt, first cousins or related cousins have greater chances of producing a child with generic disorders including mental retardation. In case there is already a child with mental retardation, the parents should seek genetic counselling before planning to have another child.

Age of the mother is very important for producing a normal baby.

1. Mothers over the age of 35 face higher risks for chromosomal abnormalities, prematurity, complication during pregnancy, and congenital abnormalities in the offspring.
2. Very young mothers below 15 years of age. Whose reproductive systems are still immature and whose bodies are still growing, also face greater risks of producing an abnormal baby.
3. Highest risks for mental retardation are reported among children from mothers who have borne three children before the age of 20, and children from mothers having first pregnancy over an age of 35.
4. Genetic defects also increase significantly with maternal age. For example, incidence figures on Down Syndrome are 1 in every 2,000 births for 20 year old mothers, and 1 in every 50 births for mothers over 45.
5. As far as father's age is concerned, the chances of having a mentally retarded baby are higher when the age of the father is over 50 years.

Some of the important factors are as follows:

1. Chromosomal abnormality, genetic disorders, infections in mother during the first three months of pregnancy.
2. Some common infections that affect the developing brain of the foetus are rubella, herpes, syphilis, CMV, toxoplasmosis, maternal diseases like diabetes mellitus, high blood pressure, hypothyroidism and hyperthyroidism, malnutrition, exposure to X-rays in the early months of pregnancy, using harmful drugs, maternal-foetal blood incompatibility: RH factor, maternal use of alcohol, drugs and smoking.

Failures, frustrations and disappointments directly are not linked with producing a baby with mental retardation. However, these factors can affect indirectly. For example a pregnant mother who remains sad may not eat properly which may then effect the growth of the baby.

All the characteristics of mental retardation can appear long after birth because of injury to the brain anytime during the period of development up to 18 years of age. injury to the brain can be caused by the following factors:

1. Severe malnutrition in the child especially during birth to 2 years of life
2. Repeated episodes of epileptic fits
3. Injury to brain from accidents of falls
4. Strangulation, smoke inhalation, or near drowning
5. Accidental poisoning

Mental retardation can also be caused due to the following factors:

• Premature birth
• Prolonged state of hypoxia
• Low birth weight
• Trauma to the head of the new born baby
• Prolonged labour excessive cooling of the umbilical cord around the neck of the foetus
• Abnormal position of the foetus
• Severe jaundice in the new born due to various causes

Feeding a child especially in the first two years of life on a balanced and nutritious diet which includes proteins, carbohydrates, fats, mineral salts, vitamins etc. is essential and can influence the mental as well as physical growth of the child. However, over emphasis on feeding a child only with almonds, pure ghee, butter or mild could rather prove harmful to the child.

Mental retardation as a condition is not curable. It is also considered permanent in the sense that once the damage to the brain has occurred, the condition is established and it is irreversible. There are, however, few conditions established and it is irreversible. There are, however, few conditions where prevention is possible. In case of mental retardation cause due to Phenylketonuria (PKU), special diet low in phenylanine is required to be taken. Mental retardation caused due to thyroid deficiency can be prevented by medical treatment, while in case of hydrocephalus, surgical intervention can reduce the pressure in the brain by using a sound.

Within the limitations of the disability, the child will adapt and accomplish whatever is possible, provided the opportunities for learning should be made available to the child at the earliest. The efforts of professionals working cooperatively with parents are directed at functional independence to achieve realistic goals in persons with mental retardation. So it is very essential that parents seek out services at the earliest.

Life span of individuals with mental retardation vary depending upon the cause and nature of his/her mental retardation. If a child with mental retardation has associated medical problems which are threatening in nature, such children don't live long. However with improved medical care the life span of persons with mental retardation has increased to correspond with that of a normal human being.

A child with mental retardation can also have associated physical, visual or hearing problems. The more severe is the brain damage, the more chances are there for multiple impairments associated with mental retardation.

The birth of a child whether disabled or non-disabled is known to produce pressure since it includes adjustments and extra responsibilities for various members of the family. However, birth of a mentally retarded child does produce greater pressure on the family because of extra demands of child care, greater financial burden and above all the worry and tension that the child is not normal.

Cerebral Palsy (CP) refers to a complex non progressive condition caused by damage to brain within first 3 years of life that produces a disability because of muscular incoordination and weakness. The word "cerebral" refers to brain and "palsy" to a disorder of movement or posture. Cerebral Palsy involves various types of impairments in gross and fine motor coordination. Most common types of Cerebral Palsy are:

1. Spastic (most prevalent, present in 50% of CP cases):
2. It is characterized by loss of voluntary muscle control. Spasticity results from the damage to the part of the brain known as cerebrum.
3. Choreo-athetoid: It involves the presence of abrupt, involuntary movements of the boy. in this type of cerebral palsy, the difficulty is of controlling movement and maintaining one's posture. This results from damage to basal ganglia.
4. Mixed: As the name implies, the mixed type cerebral palsy includes both spastic and athetoid forms. For example, in a child with mixed type of cerebral palsy, arms may be rigid while legs may be spastic or the same child may become suddenly rigid or floppy at different times.

The brain damage that causes cerebral palsy may also produce a number of other disorders including mental retardation, seizures, visual and auditory deficits. The more extensive the brain damage, more chances that the child will have mental retardation. It is however very important to realize that all children with cerebral palsy are not mentally retarded. There are many persons with cerebral palsy who have normal intelligence. Mental retardation occurs only whenever there is extensive damage to the brain.

The child with mental retardation and associated cerebral palsy will have dual set of problems. Such children will require training in activities of daily living, language and communication, socialization, functional academics and cognitive areas like other children with mental retardation. In addition, services of professionals like physiotherapist and occupational therapist will also be required for development of coordinated voluntary movements and postural training.

Down syndrome is a chromosomal disorder that is caused by the presence of an extra chromosome at pair no 21. The incidence in the general population is 1 in 800 live births but the incidence increase as the age of the mother increases (1 to 50 for mothers over 45 years of age). Affected children have slanting eyes, flat noses and large tongues. Congenital heard defects and gastrointestinal malformations are common. Most of the children with Down Syndrome have mild to moderate mental retardation.

Autism is a rare disorder that occurs in about 4 in 10,000 children. In a child with autism, thinking, language, and behavior are all affected. The disorder is about two to four times more common in males than females. In general, autistic children have the following characteristics:

1. Language disorder: language is both delayed and deviant
2. Strange behavior like ritualistic hand movements or repetitive behaviors
3. Social isolation: they don't enjoy being held or cuddled, and may neither respond nor appreciate feelings of others.

Some of the children have isolated skills e.g. they may be able to assemble complex puzzles, multiply as quickly as pocket calculators, and read the newspaper with expression but not understanding.

Can children with mental retardation have autistic features?

Autistic features characterized by socially withdrawn behavior, ritualistic behaviors and delayed and deviant language can be seen in some children with mental retardation. Change of behavior may range from extreme social withdrawal to mild form. In extreme cases, it is categorized as socially inappropriate syndrome.

Epilepsy is not an illness. Epileptic fits are caused due to abnormal electrical discharge in the brain which gets generalized. Epilepsy or fits is a condition characterized by jerky movements which last usually for about 2 to 3 minutes. During this the person may remain unconscious for about 20 to 30 minutes. This type of epilepsy is called grandmal. Following the epileptic seizure, the person does not remember anything which happened during the seizure. If seizure occurs when the person is walking, driving, or cooking, the fit may begin by a fatal. Due to this fall, a person may sustain injury depending upon place and type of activity.

Another type of epilepsy is called petit mal which is characterized by short absence of consciousness lasting few seconds up to a maximum of 20 seconds. Following the petitmal seizure, the person resumes the original activity.

Do all mentally retarded persons have fits?

About 10% of children with mental retardation have seizures. More severe is the degree of retardation, more are the chances of having epilepsy. The convulsions may start right at birth or develop later. If not managed, seizures can cause harm to the individual with mental retardation like:

1. Repeated fits can damage the brain and lead to further retardation.
2. It results in the impairment of memory which interferes with learning process

Can fits be controlled?

Medical treatment must be taken for controlling seizures. Other treatment approaches include special diets, called ketogenic diet and surgery.

Parents should seek advice of medical doctors for seizure control. The exact dosage of drugs and combination of drugs must be taken regularly as prescribed by the doctor. Treatment is generally long term and continues for 3-4 years even after the seizures have stopped.

Why is that even when the child is having medicines for a long time, yet fits are continuing?

Possible reasons that fits are persisting in spite of medications which are as follows:

1. Severity of mental retardation is such that there is an extensive brain damage and consequently, medicines are not able to control fits.
2. Use of less dosage of medicines.
3. Irregular consumption of medicines.
4. Sudden stopping of drugs without consulting the doctor.
5. Metabolic defects not controlled by drugs.

Is giving medicines for fits for a long period of time will harm the child?

Many persons with mental retardation on long term medications for seizures face risks of side effects of the drugs used for controlling fits/seizures. Some of the side effects of the commonly used medications for controlling are like laziness, hyperactivity, rash and liver damage, but reversible mostly. However, regular use of antiepileptic drugs for control is a must for normal functioning in all type of situations despite side effects.