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Physical Therapy

Pediatric physical therapy is concerned with the examination, evaluation, diagnosis, prognosis, and intervention of children, aged birth through adolescence, who are experiencing functional limitations or disability due to trauma, a disorder, or disease process.

The goal of treatment is to diminish impairments and functional limitations to prevent or decrease disability. Treatment may be focused on improving developmental tasks, motor planning, manipulation skills, posture, endurance, strength, balance, and/or coordination. The affected child may present with difficulties with ambulation, positioning, and/or motor function. All of these problems need to be addressed, as they can result in the inability to keep up with peers or perform work at school.

Frequently Asked Questions About Physical Therapy
What Is Physical Therapy?
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Pediatric physical therapists provide services to children or youth who have genetic, congenital or acquired conditions that affect motor development and motor function, including positioning, sitting and walking. Pediatric physical therapy addresses the mobility and gross motor needs of infants, toddlers and adolescents. Physical therapists work with children to assist them and their families in achieving the child’s highest level of independence. Pediatric physical therapists are trained to assess the gross motor and sensory functions of children and to develop individual treatment that emphasizes improved functional skills, or prevention of further disability. In addition to assessing range of motion, strength, posture, and gait, a physical therapist will also assess motor planning, how a child accomplishes a given task; and the sensory system, how a child interprets and responds to data. This focus enhances the gross motor function of a child, and promotes independence and safety at home and in the community. .

What is involved?

Intervention encompasses the coordination and documentation of care, specific treatment procedures, and patient/family education. Physical therapists also must be skilled in recognizing the need to refer a patient back to a physician or recommend the services of other professionals as necessary. The physical therapist usually plays a key role in making recommendations or sometimes participating in the fabrication and fitting of orthoses, walking aids, and wheelchairs. In addition, the physical therapist is instrumental in choosing appropriate adaptive equipment, such as seating devices or standing frames, for the classroom or home.

Intervention involves the interaction between therapist and patient. It also includes communication with the family and other professionals as needed, including physicians, nurses, psychologists, occupational therapists, speech and language pathologists.

Who could benefit from PT?
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Children might require physical therapy for a variety of different reasons.  Here are some of the conditions that might require the attention of a pediatric physical therapist:

Below is a list of the most prevalent conditions that require physical therapy. For further information on these and other conditions, please contact the professional therapists at Kiddos’ Clubhouse.

Arthrogryposis Ataxia
Autism Cerebral Palsy
Coordination difficulties Delays in gross motor development
Down syndrome Hypotonia
Motor planning difficulties Muscular Dystrophy
Musculoskeletal impairments Neuromotor conditions
Pervasive Developmental Disorders (PDD) Osteogenesis Imperfecta
Toe walking Torticollis

Arthrogryposis
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Background: Arthrogryposis, or arthrogryposis multiplex congenita, comprises nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth. The term currently is used in connection with a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures.

Pathophysiology: The major cause of arthrogryposis is fetal akinesia (ie, decreased fetal movements) due to fetal abnormalities (eg, neurogenic, muscle, or connective tissue abnormalities; mechanical limitations to movement) or maternal disorders (eg, infection, drugs, trauma, other maternal illnesses). Generalized fetal akinesia also can lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord.

During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures; lack of fetal movement causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating the joint contracture. Contractures secondary to fetal akinesia are more severe in patients who are diagnosed early in pregnancy and in those who experience akinesia for longer periods of time during gestation.

*Taken from www.emedicine.com

Ataxia
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The word, “ataxia”, comes from the Greek word, “a taxis” meaning “without order or incoordination”. The Medline plus Merriam-Webster Medical Dictionary defines ataxia (a-tak-se-a) as, “An inability to coordinate muscular movements that is symptomatic of some nervous disorders.”

The word ataxia is often used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia is also used to denote a group of specific degenerative diseases of the nervous system called the hereditary and sporadic ataxias.

Autism
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What Is Autism?

Autism is one of the most common developmental disabilities. Including the milder form of autism known as pervasive developmental disorder or PDD, autism affects more than six out of every 1,000 children.

Children with autism have trouble communicating. They have trouble understanding what other people think and feel. This makes it very hard for them to express themselves either with words or through gestures, facial expressions, and touch.

A child with autism can be greatly troubled -- sometimes even pained -- by sounds, touches, smells, or sights that seem normal to others.

Children with autism may have repeated body movements such as rocking or hand flapping. They may have unusual responses to people, attachments to objects, resistance to change in their routines, and/or aggressive or self-injurious behavior. At times they may seem not to notice people, objects, or activities in their surroundings. Some children with autism also develop seizures, in some cases not until adolescence.

Many people with autism have problems in certain areas, especially the ability to communicate and relate to others. But they may have unusually developed skills in other areas, such as drawing, creating music, solving math problems or memorizing facts. For this reason, they may test higher -- perhaps even in the average or above-average range -- on nonverbal intelligence tests.

Autism typically appears during the first three years of life. Some children show signs from birth; others seem to develop normally at first, only to slip suddenly into symptoms when they are 18 to 36 months old. Autism is four times more common in boys than in girls. Autism knows no racial, ethnic, or social boundaries; family income, lifestyle, and educational levels do not affect a child's chance of having autism.

Some of the different types of autism include:

  • Autistic disorder. This what most people think of when they hear the word "autism." It refers to problems with social interactions, communication, and imaginative play in children younger than 3 years.
  • Asperger's syndrome. These children don't have a problem with language -- in fact, they tend to score in the average or above-average range on intelligence tests. But they have the same social problems and limited scope of interests as children with autistic disorder.
  • Pervasive developmental disorder or PDD -- also known as atypical autism. This is a kind of catchall category for children who have some autistic problems but who don't fit into other categories.
  • Rett's disorder. Known to occur only in girls, Rett's children begin to develop normally. Then they begin to lose their communication and social skills. Beginning at the age of 1 to 4 years, repetitive hand movements replace purposeful use of the hands.
  • Childhood disintegrative disorder. These children develop normally for at least two years, and then lose some or most of their communication and social skills.
Core symptoms

The severity of symptoms varies greatly between individuals; however, all people with autism have some core symptoms in the areas of:

  • Social interactions and relationships. Symptoms may include:
    • Significant problems developing nonverbal communication skills, such as eye-to-eye gazing, facial expressions, and body posture.
    • Failure to establish friendships with children the same age.
    • Lack of interest in sharing enjoyment, interests, or achievements with other people.
    • Lack of empathy. People with autism may have difficulty understanding another person's feelings, such as pain or sorrow.
  • Verbal and nonverbal communication. Symptoms may include:
    • Delay in, or lack of, learning to talk. As many as 50% of people with autism never speak.
    • Problems taking steps to start a conversation. Also, people with autism have difficulties continuing a conversation once it has begun.
    • Stereotyped and repetitive use of language. People with autism often repeat over and over a phrase they have heard previously (echolalia).
    • Difficulty understanding their listener's perspective. For example, a person with autism may not understand that someone is using humor. They may interpret the communication word for word and fail to catch the implied meaning.
  • Limited interests in activities or play. Symptoms may include:
    • An unusual focus on pieces. Younger children with autism often focus on parts of toys, such as the wheels on a car, rather than playing with the entire toy.
    • Preoccupation with certain topics. Older children and adults are often fascinated by train schedules, weather patterns, or license plates.
    • A need for sameness and routines. For example, a child with autism may always need to eat bread before salad and insist on driving the same route every day to school.
    • Stereotyped behaviors. These include body rocking and hand flapping.

What Are the Treatments?

There is no known cure for autism, but it is treatable. Many people with autism become more responsive as they come to better understand the world. Some children lose all symptoms of autism. The goals of treatment include:

  • Stopping inappropriate behaviors so the child can relate better to others.
  • Teaching the child to attend to purposeful activity. This can help the child succeed in educational settings.
  • Helping the child learn self-care skills.
  • Providing opportunities for the child to socialize with others.
  • Improving the child's communication skills.
  • Teaching parents how to provide helpful educational and social experiences for their child.
  • In most cases, treatment is provided in an individualized program that focuses on behavior modification and skills development. Treatment also may involve medication to help control specific symptoms. Usually a team of specialists is involved. The team may include a psychologist, a special education teacher, a speech therapist, a child development specialist, and trained aides.
  • In general, treatment programs tend to be more effective if they build on the child's unique interests; if they engage the child in highly structured activities according to a predictable schedule; and if they provide regular rewards for desired behavior. Also, the parents' involvement is very important to the development of autistic children.
The earlier treatment begins, the better the child's chance of developing important skills. Early treatment can greatly help most children with autism. No matter how late treatment begins, there is hope. Treatment usually reduces symptoms of autism regardless of the child's age or the severity of the condition.

Cerebral Palsy
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Roughly 500,000 people in the United States have cerebral palsy. It is one of the most common of all congenital (present at birth) disorders: In the United States 15-20 cases are seen in every 10,000 births.

Children who eventually develop cerebral palsy experience injury to their central nervous system sometime before birth or at birth. This injury causes changes in the structure of the infant's brain. We call the changes "static encephalopathy" (encephalopathy means "brain disease") because they seem to stop right after birth. It is the physical effects caused by the injury, such as muscle spasticity and inability to walk, that family and healthcare workers need to be aware of as the child grows up. There may also be neurological side effects like seizures (epilepsy).

Cerebral Palsy can be caused by something that happens

  • Before delivery (the most common time): such as infection, stroke, and metabolic problems such as diabetes and hyperthyroidism.
  • During delivery: such as not enough oxygen reaching the fetus.
  • Just after birth: such as a stroke or an infection in the baby.

Some children with cerebral palsy are born early or with obvious signs of infection, but in many cases the cause of brain injury is unknown.

Symptoms

Cerebral palsy symptoms include unusually weak or tight muscles, difficulty with balance, poor coordination, abnormal reflexes, and delay in developing motor skills such as sitting and walking. The diagnosis refers exclusively to problems with movement, but the underlying brain injury may cause other neurological problems. About half of children with cerebral palsy will also develop seizures, and about one-quarter will have severe mental retardation. Some of these symptoms may take time to become obvious, especially since cases of cerebral palsy can range from severe to mild and almost unnoticeable.

The brain injuries that cause cerebral palsy get no worse over time, but the symptoms may develop and change over time. For example, weak muscles often result in what are known as joint contractures -- permanent bending away from the normal position of the joint -- as the child grows. But at the same time, the child's brain continues to develop, and other symptoms may improve.

Diagnosis

Cerebral palsy is sometimes diagnosed at birth, or the diagnosis may not be made until a child is 2 or 3 years old. Physicians use a number of clinical tests to make the diagnosis: No one blood test or X-ray can detect this condition. The physician will test the strength of various muscles, assess the range of motion of different joints, and compare the child's physical and intellectual development with normal childhood milestones.

Before diagnosing a child with cerebral palsy, the physician may also order lab tests to rule out other causes for the developmental delay (like Tay-Sachs disease or leukodystrophy).

The awkward configurations of muscles in children with cerebral palsy can cause problems with bones, muscles, and joints. A specialist (often a pediatric orthopedist) will look for problems such as abnormal positioning of the feet, dislocated hips, and scoliosis -- curving of the spine.

Classifying Cerebral Palsy

Doctors classify cerebral palsy according to the type of abnormal muscle control the child experiences:

  • Spastic. Children with spastic cerebral palsy have increased reflexes, increased muscle tone, tight muscles, and joint contractures.
  • Hypotonic. These children have decreased muscle tone, resulting in weakness and joint instability.
  • Athetoid. Children with athetoid cerebral palsy squirm and thrash about when they become upset or excited.
  • Ataxic. These children generally don't have joint contractures, but they have problems with balance and tremors.

The condition is also classified by the area of the body affected. Common patterns include:

  • Hemiplegia (involvement of the arm and leg on one side).
  • Diplegia (involvement of either both legs or both feet).
  • Quadriplegia (involvement of all four limbs).

Treatment Goals

Doctors today can't repair the brain injury that causes cerebral palsy, but healthcare providers can use a number of tools to help control and improve symptoms.

Therapy works to improve strength, range of motion, and joint mobility is the mainstay of treatment. Braces are often used to keep joints in appropriate positions. Medications can also reduce symptoms. Recently, physicians have begun using botulinum toxin (a purified form of a bacterium that causes food poisoning) to relax overactive muscles. Injected into the affected areas, this substance -- marketed as the drug Botox -- can sometimes temporarily restore function. Finally, surgery sometimes can help treat the problems that may develop as the child grows.

Different patients with cerebral palsy have widely differing symptoms. Treatment strategies must be tailored to the individual. In a study published in Clinics in Developmental Medicine, Dr. Eugene Bleck has shown that communication, daily activities, and general mobility are the highest priorities for these patients.

"It is important to be as honest and realistic with the patient and his or her family as possible. Once they understand the issues and the options, they are the ones who guide the treatment," explains Roye.

With input from families and an interdisciplinary team of specialists, children with cerebral palsy can improve tremendously. A cure remains elusive, but early intervention by a well-coordinated team can often make a significant difference in quality of life for affected children.

Down syndrome
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What is Down syndrome?

People with Down syndrome have an extra or irregular chromosome in some or all of their body's cells. The chromosomal abnormalities impair physical and mental development. Most people with Down syndrome have distinctive physical features.

What causes Down syndrome?

The extra or irregular chromosomes related to Down syndrome result from abnormal cell division in the egg before or after it is fertilized by sperm. Less often, the abnormal cell division occurs in sperm before conception. It is not known why the cells divide abnormally.

What are the signs?

Signs of Down syndrome usually appear at birth or shortly thereafter. Many children with the condition have a flat face, small ears and mouth, and broad hands and feet, although these features vary from person to person. Most young children have a lack of muscle tone (hypotonia), which generally improves by late childhood.

Often developmental disabilities result from the combination of a lower intelligence level and physical limitations related to Down syndrome. Heart defects, intestinal abnormalities, and irregular ear and respiratory tract structures can also occur and cause additional symptoms or lead to complications.

Your child's treatment for Down syndrome will be directed by a team of health professionals. This treatment is guided by the identification of your child's unique symptoms and physical problems. You can help your child become as independent as possible and lead a healthy, productive life by working closely with these health professionals and other care providers.

Initial treatment

It is normal to experience a wide range of emotions when your baby is born with Down syndrome. Even if you learned about your baby's condition while pregnant, the first few weeks after birth often are very difficult as you learn to cope with the diagnosis.

A confirmed diagnosis of Down syndrome requires karyotyping. This test usually is done on a sample of your baby's blood if it is done after birth. It may take 2 to 3 weeks to get the complete results of this test. This waiting period can be extremely difficult, especially if earlier test results were uncertain and your baby has only subtle characteristics of Down syndrome.

Your newborn with Down syndrome will have regular checkups and various tests during the first month. These tests are used to monitor his or her condition and to help health professionals look for early signs of common diseases associated with Down syndrome and other health conditions. These checkups also are a good time to begin discussing issues of concern about your newborn.

As a parent of a child with Down syndrome, you play an important role in helping your child reach his or her full potential. Most families choose to raise their child, while some consider foster care or adoption. Support groups and organizations can assist you in making the right decision for your family.

Being a parent of a child with Down syndrome is full of challenges and frustrations and frequent highs and lows—all of which can lead to exhaustion. Take good care of yourself so you have the energy to enjoy your child and attend to his or her needs.

Developmental milestones and achieving basic skills

Be patient and encouraging with your young child as he or she learns to walk and master other developmental skills, such as turning over, sitting, standing, and talking. Your child will likely take more time than other children to reach these milestones, but the achievements are just as significant and exciting to watch.

Enroll your young child (infant through age 3) in an early-intervention program. These programs have staff who are trained to monitor and encourage your child's development. Talk with a health professional about programs available in your area.

Basic skills, such as learning to feed oneself and dress independently, also take longer to accomplish for children with Down syndrome. Maintain a positive attitude when helping your child learn these tasks. Provide opportunities to practice and recognize that it is okay for your child to be challenged and sometimes fail.

You also can promote your child's development by having a positive attitude and providing him or her with learning and socialization opportunities. You can stimulate your child's thinking skills without making tasks too difficult.

A child with Down syndrome may need additional therapy, counseling, or training. Parents and other caregivers may also need assistance in planning a secure future for their family member with Down syndrome.

Different types of therapy, such as occupational and speech therapy, are used frequently to help people with Down syndrome learn essential skills and achieve as much independence as possible.

Families of children with Down syndrome may need other types of resources, such as:

  • Financial assistance. Children with Down syndrome have special needs that may create additional financial expenses for the family. In the United States, some state and federal government services help cover the costs of certain programs. The amount your child receives depends on different factors such as your income and your child's level of disability. To find out about financial assistance in your state, call your state's Department of Developmental Disabilities.
  • Estate planning. Become familiar with tax issues and estate planning to ensure that your child will have proper care and necessary resources available should you die. If you have other children who have developed normally, include them in planning for the future of your child with Down syndrome.
Family counseling. This therapy involves regular sessions with a qualified counselor who has experience working with families who have children with Down syndrome.
Muscular dystrophy back to top

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

*Taken from www.ninds.nih.gov

Pervasive Development Disorders
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The term "pervasive development disorders" (PDDs) refers to a group of conditions that involve delays in the development of many basic skills, most notably the ability to socialize with others, to communicate and to use imagination. Children with these conditions often are confused in their thinking and generally have problems understanding the world around them.

Because these conditions typically are identified in children around 3 years of age -- a critical period in a child's development -- they are called development disorders. Although the condition begins far earlier than 3 years of age, parents often do not notice a problem until the child is a toddler who is not walking, talking or developing as well as other children of the same age.

What Conditions Are Considered Pervasive Development Disorders?

There are five types of PDDs:

  • Autism: Children with autism have problems with social interaction, pretend play and communication. They also have a limited range of activities and interests. Many (nearly 75%) of children with autism also have some degree of mental retardation.
  • Asperger's syndrome : Like children with autism, children with Asperger's syndrome have difficulty with social interaction and communication, and have a narrow range of interests. However, children with Asperger's have average or above average intelligence, and develop normally in the areas of language and cognition (the mental processes related to thinking and learning). Children with Asperger's often also have difficulty concentrating and may have poor coordination.
  • Childhood disintegrative disorder: Children with this rare condition begin their development normally in all areas, physical and mental. At some point, usually between 2 and 10 years of age, a child with this illness loses many of the skills he or she has developed. In addition to the loss of social and language skills, a child with disintegrative disorder may lose control of other functions, including bowel and bladder control.
  • Rett's syndrome: Children with this very rare disorder have the symptoms associated with a PDD and also suffer problems with physical development. They generally suffer the loss of many motor, or movement, skills -- such as walking and use of their hands -- and develop poor coordination. This condition has been linked to a defect on the X chromosome, so it almost always affects girls.
  • Pervasive development disorder not otherwise specified (PDDNOS): This category is used to refer to children who have significant problems with communication and play, and some difficulty interacting with others, but are too social to be considered autistic.

What Are the Symptoms of Pervasive Development Disorders?

The use of the word "pervasive" to describe these illnesses is somewhat misleading. The definition of pervasive is "to be present throughout," but children with PDDs generally do not have problems in all areas of functioning. Rather, most children with PDDs have specific problem areas and often function very well in other areas.

Children with PDDs, such as autism, can display a wide range of symptoms, and the symptoms can range in severity from mild to disabling. They also vary widely in their individual abilities, intelligence and behavior.

General symptoms that may be present to some degree in a child with a PDD include:

  • Difficulty with verbal communication, including problems using and understanding language
  • Difficulty with non-verbal communication, such as gestures and facial expressions
  • Difficulty with social interaction, including relating to people and to his or her surroundings
  • Unusual ways of playing with toys and other objects
  • Difficulty adjusting to changes in routine or familiar surroundings
  • Repetitive body movements or patterns of behavior, such as hand flapping, spinning and head banging
  • Changing response to sound (The child may be very sensitive to some noises and seem to not hear others.)
  • Temper tantrums
  • Difficulty sleeping
  • Aggressive behavior
  • Fearfulness or anxiety (nervousness)

What Causes Pervasive Development Disorders?

The cause of these illnesses is not known, but researchers are looking for answers. Some studies suggest that PDDs are caused by a problem with the nervous system (brain and spinal cord). Studies currently in progress are examining the structure and function of the brain in people with autism for clues that may help us better understand these conditions, as well as how to treat and/or prevent them.

How Common Are Pervasive Development Disorders?

It is estimated that PDDs occur in about 5 to 15 children per 10,000 births. In general, PDDs are more common in boys than in girls, with the exception of Rett's syndrome, which occurs almost always in girls.

How Are Pervasive Development Disorders Diagnosed?

If symptoms are present, the doctor will begin an evaluation by performing a complete medical history and physical examination. Although there are no laboratory tests to diagnose a PDD, the doctor may use various tests -- such as X-rays and blood tests -- to determine if there is a physical disorder causing the symptoms.

If no physical disorder is found, the child may be referred to a specialist in childhood development disorders, such as a child and adolescent psychiatrist or psychologist, pediatric neurologist, developmental pediatrician, or other health professionals who are specially trained to diagnose and treat PDDs. The doctor bases his or her diagnosis on the child's level of development, and the doctor's observation of the child's speech and behavior, including his or her play and ability to socialize with others. The doctor often seeks input from the child's parents, teachers and other adults who are familiar with the child's symptoms.

How Are Pervasive Development Disorders Treated?

Because children with PDDs have a range of symptoms and abilities, a plan of therapy must be developed with the child's specific needs in mind. The treatment plan -- or more appropriately, a program of intervention -- will address the child's needs at home and at school. For that reason, intervention planning is a cooperative effort of the parents, healthcare providers, teachers and others who may be needed to provide services, such as counselors, social workers and occupational, physical or speech therapists. The plan aims to promote better socializing and communication, and reduce behaviors that can interfere with learning and functioning.

A plan of care for a child with a PDD may include:

  • Special education: Education is structured to meet the child's unique educational needs.
  • Behavior modification: This may include strategies for supporting positive behavior by the child.
  • Speech, physical or occupational therapy: These therapies are designed to increase the child's functional abilities.
  • Medication : There are no drugs to treat the PDDs themselves. Medications may be used, however, to treat specific symptoms such as anxiety (nervousness), hyperactivity and behavior that may result in injury.

What Is the Outlook for People With Pervasive Development Disorders?

The outlook varies depending on the type and severity of the condition, the age at which treatment is started, and the availability of supportive resources for the child. Most children with PDDs will continue to have some problems with communication and socialization, but many can experience a significant increase in function.

Osteogenesis imperfecta back to top

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. For example, a person may have just a few or as many as several hundred fractures in a lifetime.

Diagnosis
OI is caused by a genetic defect that affects the body’s production of collagen. Collagen is the major protein of the body’s connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal, leading to weak bones that fracture easily.

It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all collagen type 1 mutations.

A positive collagen type 1 study confirms the diagnosis of OI, but a negative result leaves open the possibility that either a collagen type 1 mutation is present but was not detected or the patient has a form of the disorder that is not associated with collagen type 1 mutations. Therefore, a negative collagen type 1 study does not rule out OI.

Clinical Features
The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family, and not all characteristics are evident in each case. The general features of the four recognized types (Types I-IV) of OI, which vary in characteristics and severity.

*Taken from www.oif.org

Torticollis back to top

Parents of a newborn are often fascinated by their child's every move. When a child doesn't move in a normal way, the parents are rightly concerned.

An infant who keeps his or her head tilted to one side may have a condition called congenital muscular torticollis. Congenital means that the condition is present at birth. Torticollis means twisted or bent neck. It is caused by a tight muscle on one side of the head that pulls the head (ear) down toward one shoulder as the chin tilts to the opposite side.

Within the first month after birth, a lump or pseudotumor may be felt on the tight muscle, but this gradually disappears. As many as one in five babies born with congenital muscular torticollis also has developmental dysplasia of the hip. Early diagnosis and treatment is required to avoid permanent deformities.

If you notice that your child consistently holds the head tilted to one side, consult your physician. Conditions other than congenital muscular torticollis may result in this head position, and the physician must eliminate them as possible causes. The physician will also want to check the child's hips to ensure that no dysplasia is present. He or she may request X-rays or an ultrasound of the hips.

Congenital muscular torticollis generally is painless and can be treated with a consistent program of exercises and stretching.

*Taken from orthoinfo.aaos.org

   

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