Thursday, April 30, 2015

Zellweger's Syndrome





          Zellweger Syndrome which is also known as cerebrohepatorenal syndrome is a rare congenital disorder. It is named after Dr. Hans Zellweger, Swiss-American Pediatrician who researched this disorder.

Main symptoms of this syndrome are

  • Weak muscle tone (hypotonia)
  • Feeding problems
  • Hearing loss
  • Vision loss
  • Seizures


Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum of disease.

  • Zellweger syndrome is the most severe form

  • Neonatal adrenoleukodystrophy is the intermediate form. Adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. It causes degeneration of myelin. Myelin is the covering which nerves and promotes efficient transmission of nerve impulses. The part of brain and spinal cord which contains myelin is called as white matter. Destruction of the myelin (demyelination) leads to loss of white matter (leukodystrophy).
  • Infantile Refsum disease is the mildest form. Symptoms of this disease such as poor muscle tone may be noted at birth.  Development is delayed in all aspects and mental retardation is soon evident.  Hearing is poor as is vision, especially at night.
  •          

Zellweger spectrum disorders are also known as peroxisome biogenesis disorders (PBDs) - a group of disorders characterized by the failure of the body to produce peroxisomes that function properly. Some genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome.


Mutations in the genes that cause the Zellweger spectrum prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including the Zellweger spectrum, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells.



Children with this syndrome show the symptoms during 1st year of birth as they develop life threatening problems in tissues and organs such as liver, heart, lungs etc. Some get skeletal abnormalities, facial deformation like flattened face, broad nasal bridge, high forehead, etc. Children with this syndrome usually don’t survive beyond 1st year of life due to the above issues. Some individuals with milder forms have lived into adulthood.

Currently there is no cure for this syndrome. Only precaution is to be taken to prevent complications from pneumonia or respiratory distress. Since it is a genetic disorder, parents with 1 copy of the mutated gene when passes it to the child results in the syndrome.



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Young-Madders Syndrome





          Young-Madders Syndrome also known as Pseudotrisomy 13 syndrome or holoprosencephaly-polydactyly syndrome. It’s a genetic disorder caused by defective and duplication of chromosomes. It is named after 2 doctors Dr. I Young and D. Madders of United Kingdom, who in 1987 described this unknown condition while presenting a stillborn male infant in a publication in Journal of Medical Genetics.

It’s main symptoms are

  • Holoprosencephaly: condition in which forebrain of embryo fails to develop into 2 hemispheres
  • Polydactyly (poly – many, dactyly-fingers)


  • Facial malformations
  • Mental retardations
  • Hypoplasia: (hypo-under, plasia-formation) underdevelopment or incomplete development of an organ or tissue.
  • Cleft lip/palate

  • Cardiac lesions and other heart defects.

         
          Usually this syndrome can be diagnosed pre-natally during sonography mainly due to distinctive features of holoprosencephaly, brain or face malformations, overlapping of bones of the skull, polydatyly, genital deformities etc.

          Cases with severe form of deformities are usually stillborn. This syndrome is caused by some fault in chromosome 13.



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X-Chromosome Recessive Disorder




          Human gene consists of 23 pairs of chromosomes; of which 22 pairs are called autosome chromosome. Usually 1 copy is inherited from the mother, while other copy is inherited from the father. 23rd pair is sex chromosome as they determine the sex of the child. Females have 2 copies of X chromosome, while males have 1 copy of X chromosome and 1 copy of Y chromosome. In males, X gene is inherited from their mother, while Y is inherited from their father.

          Genes are small packets containing messages; like colour of eyes or hair, their body structure, etc. of the parents which are copied into their children. That is why we always say child has mother’s eyes or father’s complexion. So along with positive messages if a parent is a carrier of any genetic related disorder, it gets copied into the child’s gene.

          X-linked inheritance means the gene carrying the disorder is present on X chromosome.

          X-linked disorders are common in males as the X chromosome which is inherited from mother are usually the carrier of the disorder, whereas in females it requires 2 copies of genetic disorders as females consist of 2 X chromosomes. So if a female inherits the X chromosome with the genetic disorder from her mother, she doesn’t show the features of the disorder but is labeled as carrier gene as she passes the gene to her offspring’s.

          Some of the common X-linked recessive disorders are:

  • Red-green color blindness
  • Hemophilia A
  • Hemophilia B
  • Duchenne Muscular dystrophy
  • Becker’s Muscular Dystrophy.



 Some points regarding X-linked disorder :
  • The vast majority of affected individuals are male.
  • Affected males never pass the disease to their sons because there is no male-to-male transmission of the X chromosome.
  • Affected males pass the defective X chromosome to all of their daughters, who are described as obligate carriers. This means they carry the disease-causing allele but generally show no disease symptoms since a functional copy of the gene is present on the other chromosome.

  • Female carriers pass the defective X chromosome to half their sons (who are affected by the disease) and half their daughters (who are therefore also carriers). The other children inherit the normal copy of the chromosome.


  • The overall pattern of the disease is therefore characterized by the transmission of the disease from affected males to male grandchildren through carrier daughters, a pattern sometimes described as a 'knight's move'.
  • Affected females, with two deficient X chromosomes, are the rare products of a marriage between an affected male and a carrier female. However, manifesting carrier females (with one deficient X chromosome and one normal one) may arise if there is a chromosome disorder or a problem with X-chromosome inactivation.



          It’s always better now-a-days to get all necessary tests done before conceiving, to rule out genetic problems. Since most of the genetic disorders don’t have any known cure, it’s better to know beforehand. 


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Tuesday, April 28, 2015

West Syndrome





          West Syndrome often referred as Infantile Spasm (IS) is named after it was 1st described by Dr. William James West in 1840s when he observed the spasms in his 4-month kid.


          Spasms means sudden jerks which one can't control followed by stiffening of the muscles. Infantile Spasms are characterized by sudden flinging of arms in outward direction, knees pulled up and body bending in forward direction. Sometimes the head is thrown back as body and legs stiffen in straight position. Each spasm lasts only for a second or 2 but it comes in clusters; which means once the child gets a spasm it lasts for few seconds then it is repeated again after few moments. Infantile Spasms is common after waking up and rarely occurs in sleep.

          Infants between 3 to 12 months of age are usually affected by infantile spasms. Infants having suffered any kind of brain injury or brain damage are ones who are usually affected. But in some cases, infants who are developing normally too suffer from West Syndrome.

          Usually doctor recommends an EEG for infants with infantile spasms. EEG with unusual pattern called hypsarrhythmia pattern is helpful in confirming the diagnosis.


Hypsarrhythmia is an abnormal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on EEG, and frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other conditions. In simpler terms, it is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal EEG shows clear separation between each signal and visible pattern.

          Children with West syndrome usually show developmental delay, have vision problems, and in children who are normal, show losing of skills which they have already developed or mastered.


          Like other epileptic disorders, infantile spasms are also treated with anti-epileptic medications. 



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Monday, April 27, 2015

Vitiligo





          Vitiligo is a kind of skin disorder or pigment disorder, wherein white patches or spots appear on skin. It is very prominent in dark skinned people.

         

        Vitiligo affects melanocytes, (cells present deep within epidermis, whose main functions is to produce melanin, pigment responsible for coloration and it natural sun protection.)

          Depending on how active melanocytes are, decides the color of our skin; dark skinned peoples cells are more active hence they produce lots of melanin, while light skinned people have less active cells.

          Sometimes the skin stops producing melanin, which causes white spots. Its color is much lighter than the skin around it. It either spreads to rest of body rapidly or sometimes it spreads slowly.

Depending on the areas of the patches, Dermatologists have classified Vitiligo into different types:

  • Focal vitiligo happens when there are just a few spots in a single area
  • Generalized vitiligo is associated with many spots all over the body that tend to be symmetrical (they affect the right and left sides of the body like a mirror image). This is the most common form of the condition.
  • Segmental vitiligo is characterized by spots only on one side of the body and usually nowhere else. This type of vitiligo is relatively uncommon.
  • Universal Vitiligo: depigmentation on most of the body.
  • Acrofacial Vitiligo: fingers and periorificial (surrounding an opening) areas.
  • Mucosal Vitiligo: depigmentation of only the mucous membranes.


Although vitiligo can occur anywhere on the body, it's more likely to happen in:
  • Areas that are exposed to the sun, such as the face or hands
  • Skin that has folds, such as the elbows, knees, or groin
  • Skin around body openings, such as the eyes, nostrils, belly button, and genital area
  • Although kids of all races are affected equally, spots tend to be more visible on those with darker skin.

Sometimes children with vitiligo have other symptoms, such as premature graying of the hair or a loss of pigment on the lips, since pigment cells are found in these places, too.

          What causes Vitiligo? Some think it’s an autoimmune disease, in which immune system attacks healthy cells, others feel it’s a genetic condition.

          Dermatologist when consulted will try to find the cause, if it’s genetic or was the child under stress or had sunburn etc. Doctor might also suggest blood test to rule out thyroid problem or diabetes, as it might increase risk of vitiligo.

          Cure for vitiligo depends from person to person. What works for 1 child may not work for other. But these are some of the precautions you can take for your child to prevent vitiligo from spreading. But these must be done after consulting dermatologist.

  • Application of sunscreen while going out in sun. As the patches lose their natural function of protection from sun, they might get burned.
  • Corticosteroid creams: when applied to affected skin, help re-pigment the affected area, by reducing the inflammation which caused loss of pigments. Some non-steroid creams also help by producing similar effect.
  • Some say photo chemotherapy with Ultra violet A/B helps, but it has some side effects. So it should be done after consultation with your doctor.


          More than the physical impact it’s the emotional and mental impact which affects the child. So it’s necessary to induce confidence in child:

  • By showing love and care towards him/her.
  • If we treat a condition as a “problem”, it tends to become a problem and it affects the child’s behavior.
  • We must explain to child, what it is, how it is caused etc. answer all their questions and make them feel comfortable.
  • We must encourage the child to go out and mix with other children.
  • We must make other kids also understand that it’s not a contagious disease nor the child is weird.


More than medicines, it’s the care and understanding which helps kids overcome any situation.


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Umbilical Sepsis







Umbilical sepsis is common name for Omphalitis of newborn.

Usually after birth, the umbilical cord is cut except for a small part which is called as stump. Generally the stump dries and falls off from the skin within 3-45 days from birth. But sometimes due to unhygienic conditions or some other reasons causes infection, which if not treated leads to Umbilical sepsis. Sepsis means inflammation due to infection.


Symptoms include

  • Redness around umbilical stump
  • Swelling
  • Pain
  • Pus from umbilical stump
  • Fever
  • Poor feeding.


          Umbilical sepsis is caused mainly due to bacterial infection. It can be prevented by maintaining hygiene while handling a newborn. The stump usually dries off quickly when exposed to air, so it’s necessary to leave the stump open. Cleaning the stump with clean cotton and water also helps.


Following practices if followed, helps keep all kinds of bacterial infections at bay.

  • Exclusive breast feeding; no prelacteals
  • Keeping cord/stump dry
  • Hand-washing by care-givers before and after handling the baby
  • Hygiene of the baby (sponging, clean clothing)
  • Avoiding unnecessary intravenous fluids, injections, needle pricks etc.


          But if detected with infection, immediately show the newborn to doctor who will prescribe a course of antibiotics and maintaining hygiene of the baby.


          Most of newborn infections can be prevented by following some simple rules of cleanliness and hygiene. 


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Saturday, April 25, 2015

Torticollis





          Torticollis is a condition wherein the neck muscles are twisted or titled to 1 side. The head is titled to one side and chin to the other. The condition might be congenital or temporary due to improper position while sleeping.

      
    When the tilt is temporary it’s called Wry neck and sometimes it goes away on its own. But if it becomes chronic, then medications, therapies and in extreme cases surgery might be required.

          If it’s congenital, it may be due to wrong position of foetus head in womb, which causes damage to neck muscles or blood supply to neck.


          Symptoms of wry neck can begin slowly. They may worsen over time. 

The most common symptoms include:

  • Inability to move the head in a normal fashion
  • Neck pain or stiffness
  • Headache
  • One shoulder higher than the other
  • Swollen neck muscles
  • Chin tilting to one side

       The faces of children may appear flattened and unbalanced. They may also have motor skill delays or difficulties with hearing and vision.
       
   Usually doctor recommends EMG (electromyogram) which measures the electrical activity in your muscles. It determines which muscles are affected and is causing the discomfort. X-rays and MRI is also recommended to find structural problems which is causing the symptoms.

Congenital forms of wry neck can be improved by stretching the neck muscle. If started within a few months of birth, this treatment can be very successful. If this or other treatments don’t work, surgery can sometimes correct the problem.

Treatments for wry neck include:

  • Applying heat
  • Massage
  • Physical therapy
  • Traction
  • Stretching exercises
  • Neck braces

Types of surgery include:

  • Fusing abnormal vertebrae
  • Lengthening neck muscles
  • Cutting nerves or muscles
  • Deep brain stimulation to interrupt nerve signals—this is used only in the most severe cases of cervical dystonia

Medications include:

  • Muscle relaxants
  • Pain medications




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Sensory Integration (SI)






 Sensory Integration Therapy is to help the child re-organize or re-process sensory information in order to have a more accurate response to external stimuli.


Normally our brain converts the messages sent from various senses into appropriate responses. This process is called sensory integration (SI). But sometimes due to some reasons (like traffic jam you can say); these messages are not received and converted into proper stimulus. That is when the child requires Sensory integration therapy. In other words, the child finds it difficult to process the stimuli and act to it accordingly.


For example the child with touch issue (tactile), might not be process  the message that the pot is hot or cold and react accordingly. Or if a child has issue with smell might not like a particular smell, or a child might get disturbed with loud noise etc.


A person with such sensory processing disorder (SPD) finds it difficult to process and act upon information received through the senses, which creates challenges in performing countless everyday tasks. Motor clumsiness, behavioral problems, anxiety, depression, school failure, and other impacts may result if the disorder is not treated effectively.

Like any other behavioral and/or developmental disorder, causes of SPD might be genetic or environmental.


Children with SPD often face problems with their motor skills and other skills required for school accomplishments. Often they are categorized in ADHD. Since both the symptoms are bit similar, proper evaluation and observation is required before proceeding forward.

SI therapy is a part of occupational therapy, where the therapist works on the senses which helps the child overcome its difficulties. For example, a child with tactile issue is given various textures so as the child feels and understands various surfaces. A child who is unable to gauge various surfaces during walking is made to cross various hurdles with textures so as he/she doesn’t stumble upon walking.


Children with SPD can overcome the problems faced due this disorder with regular practice and therapy.

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Remedial Education




                



           Remedial Education also known as developmental education is an education designed to assist students in order to achieve expected competencies in core academic skills such as literacy. Remedial can be designed for any student with or without special needs. Remedial education is designed to bring students who are lagging behind, upto level of achievement realized by their peers. The main purpose of remedial education is to bring students upto speed. Remedial education aims to improve skills or ability in each student using various techniques, such as more practice or repeating info and devoting more time on working skills.





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Wednesday, April 22, 2015

Quinsy



Quinsy also known as Peri tonsillar abscess( PTA) is an advanced stage of commonly occurring Tonsillitis. PTA occurs due to collection of pus in area surrounding tonsil. Peri means surrounding area, hence the name.



Tonsillitis occurs especially in children, but PTA can occur in any age group from infants to young adults. The abscess (collection of pus) formed in between your tonsils and wall of throat is due to spreading of bacterial infection from an infected tonsil.

Symptoms of quinsy can include:


  • A severe and quickly worsening sore throat, usually on one side
  • Swelling inside the mouth and throat
  • Difficulty opening your mouth
  • Pain when swallowing
  • Difficulty swallowing, which may cause you to drool
  • Changes to your voice or difficulty speaking
  • Bad breath
  • Earache on the affected side
  • Headache and feeling generally unwell
  • Difficulty breathing


Some complain of high fever, though it passes before the abscess is formed.

As soon as you observe the symptoms of Quinsy, it’s better to consult an ENT specialist for tests and treatment. It is important to get quinsy diagnosed and treated in order to prevent the infection from spreading and causing several serious problems due to swelling.

Treatment of Quinsy is usually done in hospital and it depends on how severe the infection is. Generally antibiotics are given to clear the infection which is administered through either intravenously or through tablets or capsules. Painkillers are also prescribed to reduce pain if necessary.  In cases where the infection is severe and antibiotics alone are not effective, pus has to be removed by:-

  • Needle aspiration - where in a long needle is used to draw out the pus,
  • Incision - an small incision (cut) is made to drain away the pus or
  • Tonsillectomy - a surgery to remove your tonsils, which is very rare case.


Prevention is best cure in Quinsy. To avoid getting quinsy, one has to avoid developing tonsillitis, by avoiding contact with people have infections which cause tonsillitis, maintaining hygiene, by regularly washing hands with soap and water, not sharing glasses with infected person, etc. 


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Monday, April 20, 2015

Paediatric Physiotherapy





Paediatric Physiotherapy assess, diagnose & treat neurological, developmental, cardio-respiratory & orthopedic conditions in children upto 18 years of age with focus on improving function and becoming independent. They provide individualized treatment to children with family involvement. Pediatric physiotherapist work with children of varying ages, ranging from premature born babies to adolescents, to ensure their optimal physical function and development. They are mainly concerned with movement, co-ordination, posture and cardiorespiratory system.  Their aim is to provide the child and their family a program which they enjoy while participating and trying to become independent and to minimize the effects of physical impairment to promote optimum function and musculoskeletal development. Advice on activities and stretches offered by the physiotherapist can assist in maintaining full range of movement and prevention of contracture. Physiotherapy has a positive and significant impact on pulmonary function, motor control, muscle strength, and physical endurance in pediatric patients.

          Paediatric physiotherapists assess and treat infants and children with a range of conditions including:


  • Cerebral palsy - from mild hemiplegia to severe quadriplegia;
  • Developmental delay - due to hypotonia with or without diagnosis and may be gross motor or global;
  • Syndromes and other genetic conditions;
  • Spina bifida and neural tube defects;
  • Muscular dystrophy and spinal muscular atrophy;
  • Brachial plexus lesions;
  • Juvenile chronic arthritis (JCA);
  • Visual handicaps;
  • Premature babies with dystonia;
  • Postural problems - torticollis, scoliosis, talipes, metatarsus adductus, or idiopathic toe walkers. 


Paediatric physiotherapists also work with a range of conditions to help older children and adolescents, including:


  • Acquired brain injury and spinal injury;
  • Neurological diseases;
  • Post trauma injuries, such as fractures, sports injuries, post orthopedic surgery;
  • Juvenile chronic arthritis and related conditions;
  • Developmental conditions such as cerebral palsy, muscular dystrophy and spina bifida;
  • Cystic fibrosis and other respiratory disorders such as asthma;
  • Burns and plastic surgery;
  • Limb deficiency conditions.



          Paediatric physiotherapists use various aids and exercises to strengthen affected muscles, and maintain muscle strength and also attain a level on independence in day-to-day activities of the child. They may use aids such as walkers or crutches or braces to correct the posture and aid in independent walking in cases where necessary. They also suggest home programs which aid in helping child attain his/her milestones, and also involve family in helping and understanding the child to attain his/her goal.



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