Microcephaly ~ Devang Chavan

When I went to his class, he was cleaning coriander leaves, slowly and carefully, observing each leaf as he cut off the edges and placed the leaves aside with the bunch of other leaves.



Devang Chavan is ten year old shy kid, who is very active and independent in all his personal skills. He can read and write simple text, good in functional mathematics and can perform simple task independently. He helps his mom at home by running few errands like buying grocery from a store, or helping at home.

He suffers from Microcephaly, which is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing.

Microcephaly can be present at birth or it may develop in the first few years of life. It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes.

Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with German measles, or chicken pox virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria (PKU).

Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy. Depending on the severity of the accompanying syndrome, children with microcephaly may have mental retardation, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities. Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.

Devang was five years old when he was admitted to Swami Brahamanand School, centre for Mentally challenged. He was very restless and hyperactive. His speech was limited to few words. He had the history of prolong illness and had to be hospitalized several times for diarrhea, respiratory track infection and convulsions. His development milestones were delayed from birth.



Over the period of six years, he has shown marked improvement in behavior and is quite obedient and well mannered. He is shy and does not interact freely in the company of strangers. He takes active part in sports and extra curriculum activities and is being trained in pre-vocational skills.

Children, like Devang, will only have mild disability, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

There is no treatment for microcephaly that can return a child’s head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team.

Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

However, ‘The National Institute of Neurological Disorders and Stroke’ (NINDS) conducts research relating to microcephaly in its laboratories at the National Institutes of Health (NIH) and supports additional research through grants to major medical institutions across the country. A small group of researchers studying a rare neurometabolic syndrome (3-PGDH), which causes microcephaly, have successfully used amino acid replacement therapy to reduce and prevent seizures.


Source: http://www.ninds.nih.gov/

Case study of an autistic child

Vinesh lives in his own world, playing with his fingers and shaking involuntarily, sometimes throwing temper tantrums and other times destroying what ever comes in his hand. I see him pull out cane-threads from the mat under him, joining it to make a long string and then stretching and pulling and rolling it over and over. His teacher asks him to stop fidgeting and he folds the string and stuffs it into his pocket, but only momentarily and then, he is again, unrolling the string and playing with it over and over again. He shows no interest in the class activities and will respond only when his instructor gives him a personal attention. His teacher says that he is very cooperative only when given 'one-to-one' attention and he is quite independent in his self care activities. He can paint, draw and perform pre-vocational skills. He is able to follow instructions and is able to ape the actions if given individual help, but for most part of the day, he is hyperactive and lives in a world of his own.

Vinesh is a case of an autistic child.

Autism is a brain development disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior.

Autism is a complex lifelong developmental disorder, and has no cure, medical or therapeutic. However, through early intervention, many children have been able to lead productive and meaningful lives with support from their family, friends and professionals

Research indicates that giving early intervention in the form of specific and appropriate training methods that are tailored to your child's needs and learning style is the one way to help your child reach his/her maximum potential. Prior to this, it is important that a special educator take a detailed assessment of your child's strengths and difficulties to develop an individual education plan for your child. There are a number of intervention styles/methods, and you would want to choose that would benefit your child most.

Autism primarily affects the areas of communication, social skills, and thought and behaviour.


About a third to a half of individuals with autism do not develop enough natural speech to meet their daily communication needs. Differences in communication may be present from the first year of life, and may include delayed onset of babbling, unusual gestures, diminished responsiveness, and vocal patterns that are not synchronized with the caregiver. for example, they may look at a pointing hand instead of the pointed-at object and they consistently fail to point at objects in order to comment on or share an experience. Autistic children may have difficulty with imaginative play and with developing symbols into language.

Autistic individuals display many forms of repetitive or restricted behavior, such as:

Stereotypy is repetitive movement, such as hand flapping, making sounds, head rolling, or body rocking.

Compulsive behavior is intended and appears to follow rules, such as arranging objects in a certain way.

Sameness is resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.

Ritualistic behavior involves the performance of daily activities the same way each time, such as an unvarying menu or dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.

Restricted behavior is limited in focus, interest, or activity, such as preoccupation with a single television program or toy.

Self-injury includes movements that injure or can injure the person, such as eye poking, skin picking, hand biting, and head banging.

For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children, whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed.

For further support and help in managing autistic child, read the answer as many questions about autism, dealing with behaviors, and other issues raised by families in India HERE
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Case Study of Fragile X Syndrome

Nikhil is 22 years old, Fragile X Syndrome child. He is placed in the vocational group at Swami Brahmanand Prathisthan, Centre for Mentally Challenged.

When he first came to school in 1997, he was very aggressive and hyperactive. At home he was very restless and would roam around the house aimlessly for the greater part of the day. He was very stubborn and would throw temper tantrums if compelled to do some work. During the years of training in the school, he has shown marked improvement, he is more co-operative and shows more concentration in manual work. He cannot read and write and has severe speech problem but he is quite independent and is able to most of his personal jobs on his own.

Fragile X syndrome is the most common form of inherited intellectual impairment. Nearly one third of patients diagnosed with fragile X syndrome also have some degree of autism, and the mutation underlying fragile X syndrome is the most commonly known single gene cause of autism.

A change or mutation in a gene on the X chromosome causes the fragile X syndrome. Chromosomes are packages of genes that are passed from generation to generation. Most individuals have 46 chromosomes, two of which are sex chromosomes. In females, these are two X's; in males they are and X and Y. Genes are given names to identify them and the gene responsible for fragile X syndrome is called the FMR1 (fragile X mental retardation 1) gene. The mutation is in the DNA (the chemical that makes up genes), of the X chromosome. The gene appears in three forms that are defined by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than 60 CGG repeats have a normal gene. Individuals with 60-200 CGG repeats have a permutation which means they carry an unstable mutation which can expand in future generations. Individuals with over 200 repeats have a full mutation which causes fragile X syndrome. The full mutation causes the gene to shut down or methylate a region of the FMR -1 gene. Normally, the FMR-1 gene produces an important protein called FMRP. When the gene is turned off, the individual does not make fragile X mental retardation protein (FMRP).

The lack of this specific protein causes fragile X syndrome.

Children with Fragile X syndrome can be recognized by their typical physical features such as enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapsed, flat feet, double-jointed fingers, hyper flexible joints and a variety of skeletal problems.

Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli.

At this time, there is no cure for fragile X syndrome. However, special education, speech and language therapy, occupational therapy and behavioral therapies are helpful in addressing many of the behavioral, and cognitive issues in fragile X syndrome. In addition, medical intervention including medications can be helpful for aggression, anxiety, hyperactivity and poor attention span. Because the impact of fragile X is so varied, it is important to do a careful evaluation of the individuals' abilities and difficulties to tailor a treatment plan to address specific needs.

All persons with fragile X can make progress, given the proper education, therapy, and support.

Speech and language, behavior, cognitive development, sensory integration, gross motor development, and daily living are areas that often need to be addressed for someone with fragile X syndrome. While many of these areas require physical and behavioral intervention, medication is often an important component of the treatment.
Children with fragile X often have a variety of behavioral challenges. Behavioral challenges are one of the main areas listed on checklists for the identification of persons with fragile X syndrome. Intervention for difficulties with attention, anxiety, and interpersonal relations requires careful planning for both medication and behavior modification.

Parents and educators may need to devise behavioral plans to help children with fragile X to cope with everyday demands of home, school, and community. Poor eye contact, hand flapping, and lack of awareness of social cues may cause difficulties in peer interactions, making inclusive educational placements more of a challenge. ADHD may also impede academic progress.

Behavioral interventions, including calming techniques and modified environments, are important components of the IEP for children with fragile X. Clear, concrete plans, with appropriate cues (e.g. visual signals for quiet mouths) and appealing rewards (e.g. stickers which lead to prizes) are essential for early childhood and school age children. Older adolescents and adults may need specific behavioral plans in vocational training, so that they can function in the work setting in the most appropriate manner.

Many of the strategies used for children with ADHD who do not have fragile X syndrome are appropriate for those with fragile X. These include seating near the teacher and away from distractions, use of a private carrel at times, short tasks with the opportunity to move around often, visual cues for sequences of events, and interactive lessons, that do not always involve sitting and listening.

Transitions and changes in schedule are especially difficult for many persons with fragile X and require careful planning by teachers and parents. Pictured schedules on the board or on Velcro cards can be used to lay out the sequence of the day. Changes, such as an assembly, can be written out or pictured and inserted in the proper sequence. Some unusual circumstances (such as a loud assembly) may call for time in a quiet room, with calming items such as a beanbag chair and a videotape, rather than the scheduled event.

Intervention for inappropriate behavior should always be planned with awareness of issues relating to sensory processing. Strategies designed to help achieve behavioral goals should include attention to the environment (lights, noise levels, activity level, etc.) and awareness of the sensory overload levels of each particular child. See Intervention for Sensory Integration Disorders for more information in this area.

Social intervention may help decrease the risk of later social, educational, and psychological dysfunction. In the school setting, social stories can be used describe a behavior that needs to be changed, with appropriate solutions for the child or adult to try. Some children with fragile X may see the school social worker or counselor in order to set social or behavioral goals.
Activities in the community, such as going to restaurants and movies, and attending other crowded, unfamiliar places may pose challenges for families. Careful planning, beginning with descriptions at home of the activities and sequences that will happen can help the child or adult with fragile X to anticipate the situation. Visual cues, such as menus or church bulletins, can also help a parent explain what will happen in an upcoming event.

Medications may be necessary for attention deficit hyperactivity disorder (ADHD) and/or for anxiety or depression. Aggressive behaviors and violent outbursts, seen in some adolescents and adults with fragile X, can often be inhibited with the use of medication. Pediatric neurologists and therapists who are familiar with fragile X syndrome can evaluate and treat these symptoms with appropriate medication. Counseling and behavioral therapies often need to accompany medical intervention. For more information, see the Medication section.



Nikhil has shown marked improvement in our school. Over the years of training, Nikhil is now helpful to his mother in running of simple errands. At school, he is placed in vocational group and perform well in fine motor activities. He helps in making different articles for sale. During the month of July, he is the active student in making of beautiful friendship bands for the festival of ‘Rakhi’ - an Indian celebration of ‘Brother’s day’. He can be placed in a sheltered workshop.

Source: http://www.fragilex.org/

Case history of Dandy-Walker Syndrome Child~ Jaisal Bakshi

Jaisal Bakshi is ten year old Dandy-Walker Syndrome child. He was admitted in Swami Brahmanand Pratishthan, Centre for Mentally Challenged two years ago. During that time, his condition was quite severe. But, he has very loving family, who work very hard on his progress and they co-operate with the teachers at school in helping him cope with his problems. He has shown marked improvement during these two years, he has better coordination of muscle movements, is able to recognize and respond to insructions and loves Bollywood music.

Dandy-Walker syndrome (DWS) is a congenital (present at birth) brain malformation typically involving the fourth ventricle and the cerebellum. The disorder was first described in 1914 by W. Dandy and K. Blackfan and was designated as Dandy-Walker syndrome in 1954 by C. Benda, who also reported familial occurrence. DWS occurs in one out of every 25,000 live births.

The following characteristics have been seen in children with Dandy-Walker syndrome:

• Enlargement of the fourth ventricle
• Absence (partial or complete) of the cerebellar vermis (area between the two cerebral hemispheres)
• Cyst formation in the posterior fossa (internal base of the skull)
• Slow motor development in early infancy
• Progressive macrocrania (abnormally enlarged skull)
• Hydrocephalus
• Seizures
• Intracranial pressure in older children, causing irritability, vomiting, and convulsions
• Cerebellar dysfunction causing ataxia and nystagmus
• Bulging occiput (back of head)
• Cranial nerve dysfunction
• Abnormal breathing patterns
• Agenesis of the corpus callosum
• Malformations of the face, limbs, digits, and heart
• Cleft lip and palate
• Urinary structural abnormalities

The majority of individuals with DWS are diagnosed their first year of life as a result of the commonly associated hydrocephalus. However, the definitive diagnosis can be made by ultrasound, CT-scan, or MRI.

Treatment consists of treating the associated symptoms (i.e., anticonvulsants for those with seizures and the insertion of a shunt for those with hydrocephalus). Balance problems and spasticity may occur and warrant physical therapy. Occupational therapy may be helpful for those with poor fine motor control.

The syndrome can appear dramatically, or be totally asymptomatic. Therefore, the prognosis for normal intellectual development varies depending on the severity of the syndrome and associated malformations. Difficulties in learning occur in 35-70% of children with DWS. Statistics in the literature citing a high rate of mental retardation most likely reflect injury due to inadequate management of the associated hydrocephalus, something which is less likely to occur today than in the past. Many children with DWS can be mainstreamed at school. Pediatricians, pediatric neurologists, pediatric neurosurgeons, geneticists, physical therapists, and educational specialists may be required to systematically follow these children and work towards ensuring that the child is given the best opportunities to reach his or her full potential.

Source: http://www.specialchild.com/