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Mental Retardation (MR)
 

1. What is mental retardation?

The American Association on Intellectual and Developmental Disabilities (AAIDD) defines MR as a disability characterised by significant limitations both in intellectual functioning and in adaptive behaviour as expressed in conceptual, social, and practical adaptive skills. This disability originates before the age of 18.

 

So, what is intelligence?

 

Intelligence refers to an individual's general mental capability. This involves the ability to reason, plan, solve problems, think abstractly, comprehend complex ideas, learn quickly, and learn from experience.

 

What is adaptive behaviour?

Adaptive behaviour is the collection of conceptual, social, and practical skills that we learn, to function in our everyday lives. Significant limitations in adaptive behaviour impact a person's daily life and affect the ability to respond to a particular situation or to the environment. Limitations in adaptive behaviour can be determined by using standardised tests.

 

Some specific examples of adaptive behaviour skills are:

Conceptual Skills
  • Receptive and expressive language;
  • Reading and writing;
  • Money concepts;
  • Self-directions. 
Social Skills
  • Interpersonal;
  • Responsibility;
  • Self-esteem;
  • Following rules;
  • Obeying laws;
  • Avoiding victimisation.
    Practical Skills
  • Personal activities of daily living such as eating, dressing, mobility and toileting.
  • Instrumental activities of daily living such as preparing meals, taking medication, using the telephone, managing money, using transport and doing housekeeping activities.
  • Occupational skills.
  • Maintaining a safe environment.
 
2. What causes mental retardation?

 The World Health Organisation (WHO) classifies the causes of MR as occurring in three stages – prenatal, perinatal, and postnatal.

 

At the prenatal stage the causes can be:

  • Chromosomal  (Down’s Syndrome and Fragile X Syndrome);
  • Hydrocephaly;
  • Adverse material and environmental influences (iodine deficiency, lead poisoning, severe malnutrition during pregnancy, maternal alcohol syndrome, maternal infections like Rubella, Syphilis, Toxo plasmosis, Cytomegalo virus-TORCH).

At the perinatal stage the causes can be:

  • Late pregnancy complications;
  • Labour complications (during delivery);
  • Very low birth weight;
  • Prematurity;
  • Birth Asphyxia, birth trauma.
  • Neonatal (first 4 weeks after birth)
  • Septicemia;
  • Jaundice;
  • Hypoglycemia.

At the postnatal stage (infancy and childhood)

  • Brain infections;
  • Head injury;                          
  • Chronic lead exposure;
  • Severe and prolonged malnutrition;
  • Gross under stimulation.   
3. How is mental retardation diagnosed and by whom?

A Pediatrician, Neuro-pediatrician, or Neuro-psychologist can make the diagnosis using special tests to evaluate the intellectual and adaptive skills of the child. The adaptive skills are communication, self care, home living skills, social skills, community skills, health and safety, academics, leisure and work. A significant limitation in two or more adaptive skills will be diagnosed as MR. A medical history and physical examination will also be done. MR can be diagnosed before the age of 18.

 
4. Is mental retardation treatable/ curable?

As a condition MR is not curable. MR caused due to thyroid deficiency can be prevented by medical treatment.

 
5. Is mental retardation degenerative/ progressive?

Mental Retardation is not a degenerative or a progressive disorder.

 
6.What factors need to be considered while determining if a person has mental retardation?

According to AAIDD, classification and systems of supports, professionals and other team members must:

  • Evaluate limitations in present functioning within the context of the individual’s age peers and culture;
  • Take into account the individual’s cultural and linguistic differences as well as communication, sensory, motor, and behavioural factors;
  • Recognise that within an individual, limitations often coexist with strengths;
  • Describe limitations so that an individualised plan of needed supports can be developed; and
  • Provide appropriate personalised supports to improve the functioning of a person with mental retardation.
   
7. How early can mental retardation be detected?

This depends on the severity and nature of MR.

  • In some conditions it can be identified at birth as in Down's Syndrome or Microcephaly (small head);
  • In genetic abnormalities it can be identified before birth;
  • After birth, if there is a delay in the developmental milestones then there is a neurological sign/ symptom to indicate MR.
8. What is mental illness (MI)?

A mental illness is a psychiatric condition that disrupts a person’s thinking, feeling,mood, ability to relate to others, and daily functioning.

 
9 . How is mental illness different from mental retardation?

MI is a disorder and it requires medical intervention, whereas MR is a condition that leads to disability. Individuals with MR have developmental delays. This is not so with individuals who have MI. MR occurs before the age of 18 years while MI can occur at any age.

 
10. What are the problems associated with mental retardation?
Some of the problems associated with MR are:
  • Visual problems;
  • Speech and hearing problems;
  • Epilepsy/ seizure disorder;
  • Associated physical problems;
  • Communication problems;
  • Sensory processing/ perceptual problems.
 


Cerebral Palsy
 
1. What is cerebral palsy (CP)?

Cerebral refers to the brain, and palsy is defined as a loss of control or weakness in movement. Putting the two words together, cerebral palsy (CP) is a loose term which is given to the Central Nervous System (CNS) motor disorder, characterised by impairment of voluntary muscle movement. In individuals who have CP, the parts of the body that provide for movement, such as the muscles, nerves, and the spinal cord are normal. However, the brain, which is the command centre for sending messages to those parts of the body that coordinate movement, is unable to do so in its usual manner.

 
2. What causes cerebral palsy?

CP results from an abnormality in, or injury to, the cerebrum — the largest area of the brain, which controls sensation and voluntary motor function. Although cerebral palsy affects movement, the underlying problem originates in the brain, not in the muscles themselves.

 

Some possible causes: Doctors and researchers have now identified many possible causes of CP, including:

  • Maternal infection during pregnancy, such as rubella or other viral infections;
  • Severe jaundice in newborns, which may be caused by infection, severe bruising or problems with red blood cells due to ABO or Rh incompatibility between the blood of the mother and her foetus;
  • Abnormal brain development before birth, resulting from genetic causes or metabolic disorders;
  • Disturbance to blood circulation to the brain before birth, caused by an artery spasm or blood clot, similar to a stroke in adults;
  • Anoxia or lack of oxygen during birth.
Risk factors

Most children with CP don't have any apparent problems during development in the womb, and at birth. However, some factors may increase the risk of CP:

  • Babies that are premature or have a low birth weight;
  • Foetuses in a feet-first position (breech presentation) at the beginning of labour;
  • Complicated labour and delivery;
  • Maternal infection during pregnancy;
  • Health problems in the mother during pregnancy that impair normal blood circulation to the uterus and placenta.
3. Is cerebral palsy degenerative/ progressive?

CP is a non-progressive, non-degenerative disorder. This means that whatever damage was done to the brain will not get worse. It only appears progressive because the symptoms may not appear until the child's lack of motor skills, or other developmental delays, begin to emerge.

 
4. What is the difference between birth injury and birth defect?

A birth injury is suffered by the infant at the time of birth or soon after birth when the infant is still in the care of medical professionals. A birth defect, however, occurs during pregnancy and involves factors outside the care of professionals, such as maternal infections or genetic malformations. CP is often the result of a birth injury, such as when an infant’s brain is damaged by lack of oxygen during birth.

 
5. Is cerebral palsy treatable/ curable?

Since the disorder is caused by irreversible brain damage, CP has no cure. However, the physical effects of the brain damage can be treated. The main goal of professionals who work with individuals affected by cerebral palsy is to foster as much independence for the individual as his or her impairment will allow.

 

Individuals with seizure disorders may be effectively controlled with anti-convulsive medications. Physical therapy, speech therapy, occupational therapy and special education are frequently utilised to maximise participation, learning and independence. For individuals who do not have intellectual involvement, accommodations can be made to living spaces, places of employment, and schools so that they may be included in the everyday world of business, education, and recreation. For many individuals with CP, inclusion is more a matter of management of their disorder, rather than treatment or a cure.

 
6. What factors need to be considered while determining if a person has cerebral palsy?

Symptoms of CP may be evident immediately after birth, or may take months or years to become noticeable.

 
  • Drooling is a common problem because of the lack of facial muscles control.
  • Muscle tremor, spasticity, or tone abnormality may be evident, with a tendency of infants to tuck their arms in toward their sides, scissoring movements of the legs, or other abnormal movements.
  • Feeding may be a continuous effort and problematic.
  • Excessive stiffness when dressing, changing diapers, or bathing.
  • Affected limbs are underdeveloped.

It is important to realise that the presence of any of these symptoms does not necessarily indicate your child has CP. Children develop on different time frames, and symptoms are often outgrown. Only your doctor can make an accurate diagnosis and guide you with regard to further action.

 
7. What are the early signs of cerebral palsy?

In general, children with cerebral palsy exhibit a wide variety of signs and symptoms, ranging from mild to severe. In addition to the symptoms mentioned in question 6, they are:

 
  • Tonal changes (ranging from stiff to too floppy) when performing voluntary movements;
  • Excessive drooling;
  • Difficulties in sucking and swallowing;
  • Significant delay in developmental milestones.
 

Some children with CP have severe mental retardation, but others are extremely bright. Many need a wheelchair and extensive, lifelong care, but some require little or no special assistance.

 
8. What are the types of cerebral palsy (tone/ distribution)?

There are four different types of CP:

  • Spastic CP is the most common, affecting a large population of all individuals with CP either in a mild, or severe form. There are four sub-groups of spasticity:
    Hemiplegia – involves both limbs on one side; the arm is usually more affected.
    Paraplegia – involves both legs; the arms are minimally involved, or not at all.
    Quadriplegia or Tetraplegia – involves all limbs, usually to the same degree.
    Diplegia – an intermediate form between paraplegia and quadriplegia; both legs are involved.
  • Athetoid or Dyskinetic CP is characterised by low muscle tone, slow, writhing movement patterns and involuntary jerking of the head or arms and legs. The movements generally increase with emotional tension and decrease while the individual is at rest.
  • Ataxic CP is rare and is characterised by weakness, uncoordinated movements, and unsteadiness. A wide gait and difficulty with fine motor skills is also common.
Mixed forms of CP are common, and is exactly what the name implies. There can be a combination of any of the CP forms; however, spasticity and athetosis is the most common combination.
 
9. Can cerebral palsy appear later in life?
   CP can appear later in life through:
  • Infections:  Meningitis, Encephalitis ( 2 to 5 years);
  • Head injury due to falls/accidents.
10. Is cerebral palsy contagious?

No. CP is not contagious.

 
11. What are the problems associated with cerebral palsy?

This depends on the site and the severity of the lesion. Some of them are:

  • Visual problems;
  • Speech and hearing;
  • Communication;
  • Epilepsy/ seizure disorders;
  • Mental retardation;
  • Perceptual problems;
  • Learning disability;
  • Coordination problem;
  • Motor problems;
  • Drooling.


Muscular Dystrophy
 
 
1. What is muscular dystrophy (MD)?

The word dystrophy comes from Latin and Greek roots meaning 'faulty nutrition'. Muscular Dystrophy (MD) is the name of a group of muscle disorders that are characterised by progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty and connective tissue.

 
2. What causes muscular dystrophy?
Flaws in muscle protein genes cause MD. Each form of MD is caused by an error in a specific gene associated with muscle function. Different types of MD are    caused due to errors in different proteins determined by different genes. Lack of dystrophin causes breakdown of muscle fibers that leads to a specific clinical pattern that has been called Duchene MD.
 
3. What are the different types of muscular dystrophy?
There are four types of MD:
  • Becker MD;
  • Duchene MD;
  • Limb-Girdle MD;
  • Facioscapulohumeral MD.
4. Is muscular dystrophy genetic?

Yes, it is a genetic condition. MDs are generally inherited but in some cases no family history of the disease may exist.

 
5. Who can be affected?

Anyone can be affected. Contrary to popular belief, muscular dystrophy is not exclusively a childhood disorder. While some types of MD are first evident in infancy or early childhood, other types may not appear until later in life.

 
6. Is muscular dystrophy treatable/ curable?

Although there is no cure for MD as yet, conservative and surgical management is available. Conservative management involves physiotherapy and occupational therapy to achieve and maintain a certain level of independence; prevent or delay contractures/deformities; and maintain the respiratory status of the individual. Surgical management helps release of soft tissues and correct bony deformities.

 
7. Who can I approach for guidance?

The best person to approach is a Pediatrician/ Neuro-pediatrician/ Neurologist (for initial diagnosis and evaluation).

 
8. What are the diagnostic tests to be carried out to determine muscular dystrophy?

A doctor makes a diagnosis by evaluating the patient's medical history and by performing a thorough physical examination. Essential to diagnosis are details about when weakness   first appeared, its severity, and which muscles are affected. Diagnostic tests such as blood tests, EMG (Electromyogram), muscle biopsy, may also be used to help the doctor distinguish between different forms of muscular dystrophy, or between muscular dystrophy and other disorders of muscles or nerves. Since MDs can be inherited, it is important for the doctor to know if anyone in the family ever had a similar disorder.

 
9. Is muscular dystrophy contagious?

No. MD is not contagious.

 
10. What are the problems associated with muscular dystrophy?
Some of the problems associated with MD are heart problems, obesity, specific learning disabilities, repeated respiratory infections, and orthopedic problems (contractures/deformities/ scoliosis – lateral curvature of the spine).
 



Down's Syndrome
 
1. What is Down's Syndrome (DS)?

Down's Syndrome is a genetic condition caused by extra genetic material (genes) from the 21st chromosome (Trisomy 21). The chromosomal disorder is believed to occur at conception.

 
2. What is a syndrome?

A syndrome is a group of symptoms which consistently occur together.

 
3. Is Down's Syndrome genetic?
Yes. DS is a genetic disorder and is the most common single cause of human birth defects
 
4. Is Down's Syndrome preventable?

There is no way to prevent DS. The chances that parents who have a child or relative with DS, will have a baby with the same genetic abnormality, is less than 1 percent (depending on the age of the mother). When there is an increased risk because of a mother's age – 35 years or older – or a history of genetic defects in a family, parents may want to use screening and diagnostic tests.

 
5.Is Down's Syndrome treatable/ curable?

DS has no cure, though the side effects that present themselves such as seizures, cardiac problems, cataracts, thyroid problems can be treated.

 
6. How early can Down's Syndrome be diagnosed?

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women be offered a screening test for DS, regardless of the woman's age. This helps identify pregnancies that are at higher-than-average risk of DS, but the screening test cannot diagnose DS or other birth defects.

 
Women who have an abnormal screening test result can undergo a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These tests are highly accurate at diagnosing, or more likely, ruling out Down’s Syndrome.
 
7. What are the common physical features associated with Down's Syndrome?
The most familiar physical traits of DS include:
 
  • Low muscle tone (muscle hypotonia);
  • Flat facial profile, including a somewhat depressed nasal bridge and small nose;
  • Upward slant to the eyes (oblique palpebral fissures);
  • Abnormal shape and small size of the ears (dysplastic ears);
  • Single deep crease across the center of the palm (simian crease);
  • Excessive ability to extend the joints (joint hyper mobility);
  • Fifth finger has one bending joint instead of two (dysplastic middle phalanx);
  • Small skin folds on the inner corners of the eyes (epicanthic folds);
  • Excessive space between large and second toe (sandal gap);
  • Enlargement of tongue in relationship to size of mouth;
  • Mental Retardation.
8. Is Down's Syndrome contagious?

No. DS being a genetic disorder, is not contagious.

 
9. What are the problems associated with Down's Syndrome?

Some of the associated problems with DS are:

 
  • Learning disabilities;
  • Eye abnormality (squint), cataract;
  • Respiratory tract infections;
  • Hearing impairment – as a result of frequent middle ear infection;
  • Hyper/ hypo-thyroidism;
  • Congenital heart disease;
  • Excessive weight.


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