Wednesday, April 21, 2010

Aagenaes syndrome

Cholestasis - lymphedema
Orpha number ORPHA1414
Prevalence of rare diseases <1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
K83.1 Q82.0
MIM number
214900
Synonym(s) Aagenaes syndrome
SUMMARY
Cholestasis-lymphedema syndrome (CLS) is characterized by chronic severe lymphoedema and severe neonatal cholestasis that usually lessens during early childhood and becomes episodic. It has been described in six large families, mainly from Norway. The common feature of this autosomal recessive condition is a generalised lymphatic anomaly. This appears to indicate that the defect resides in lymphangiogenesis, but the genetic cause remains unknown. A genome screen has been performed using DNA from Norwegian patients. Affected individuals manifested extensive allele and haplotype sharing over the 6.6-cM D15S979-D15S652 region. All Norwegian patients with CLS are likely to be homozygous for the same disease mutation, inherited from a shared ancestor. The prognosis is variable: some patients died in early childhood (mainly of bleeding because of vitamin K deficiency), whereas others died of cirrhosis in later childhood and one woman died at the age of 50 years. In contrast, nine of the reported patients are still alive at ages ranging from 30 to 61 years.

Monday, April 19, 2010

Acrocephalosyndactylia

What is Apert syndrome?

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).

Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.

Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).

How common is Apert syndrome?

Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.

What genes are related to Apert syndrome?

Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.

How do people inherit Apert syndrome?

Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.

What other names do people use for Apert syndrome?

Acrocephalosyndactyly (Apert)

Sunday, April 18, 2010

What is SPD?

Sensory processing (sometimes called "sensory integration" or SI) is a term that refers to the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or "sensory integration."
Sensory Processing Disorder (SPD, formerly known as "sensory integration dysfunction") is a condition that exists when sensory signals don't get organized into appropriate responses. Pioneering occupational therapist and neuroscientist A. Jean Ayres, PhD, likened SPD to a neurological "traffic jam" that prevents certain parts of the brain from receiving the information needed to interpret sensory information correctly. A person with 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.

Research by the SPD Foundation indicates that 1 in every 20 children experiences symptoms of Sensory Processing Disorder that are significant enough to affect their ability to participate fully in everyday life. Symptoms of SPD, like those of most disorders, occur within a broad spectrum of severity. While most of us have occasional difficulties processing sensory information, for children and adults with SPD, these difficulties are chronic, and they disrupt everyday life.


What SPD looks like

SPD can affect people in only one sense–for example, just touch or just sight or just movement–or in multiple senses. One person with SPD may over-respond to sensation and find clothing, physical contact, light, sound, food, or other sensory input to be unbearable. Another might under-respond and show little or no reaction to stimulation, even pain or extreme hot and cold. In children whose sensory processing of messages from the muscles and joints is impaired, posture and motor skills can be affected. These are the "floppy babies" who worry new parents and the kids who get called "klutz" and "spaz" on the playground. Still other children exhibit an appetite for sensation that is in perpetual overdrive. These kids often are misdiagnosed - and inappropriately medicated - for ADHD.

SPD is most commonly diagnosed in children, but people who reach adulthood without treatment also experience symptoms and continue to be affected by their inability to accurately and appropriately interpret sensory messages.

These "sensational adults" may have difficulty performing routines and activities involved in work, close relationships, and recreation. Because adults with SPD have struggled for most of their lives, they may also experience depression, underachievement, social isolation, and/or other secondary effects.

Sadly, misdiagnosis is common because many health care professionals are not trained to recognize sensory issues. The SPD Foundation is dedicated to researching these issues, educating the public and professionals about their symptoms and treatment, and advocating for those who live with Sensory Processing Disorder and sensory challenges associated with other conditions.


The causes of SPD

The exact cause of Sensory Processing Disorder–like the causes of ADHD and so many other neurodevelopmental disorders–has not yet been identified. However, preliminary studies and research suggest some leading contenders.
- from Sensational Kids: Hope and Help for Children With Sensory Processing Disorder by Lucy Jane Miller, PhD, OTR

What causes Sensory Processing Disorder is a pressing question for every parent of a child with SPD. Many worry that they are somehow to blame for their child's sensory issues.

"Is it something I did?" parents want to know.

The causes of SPD are among the subjects that researchers at SPD Foundation and their collaborators elsewhere have been studying. Preliminary research suggests that SPD is often inherited. If so, the causes of SPD are coded into the child's genetic material. Prenatal and birth complications have also been implicated, and environmental factors may be involved.

Of course, as with any developmental and/or behavioral disorder, the causes of SPD are likely to be the result of factors that are both genetic and environmental. Only with more research will it be possible to identify the role of each.

A summary of research into causation and prevalence is contained in Sensational Kids: Hope and Help for Children With Sensory Processing Disorder (New York: Perigee, 2006).


Emotional and other impacts of SPD

Children with Sensory Processing Disorder (SPD) often have problems with motor skills and other abilities needed for school success and childhood accomplishments. As a result, they often become socially isolated and suffer from low self-esteem and other social/emotional issues

These difficulties put children with SPD at high risk for many emotional, social, and educational problems, including the inability to make friends or be a part of a group, poor self-concept, academic failure, and being labeled clumsy, uncooperative, belligerent, disruptive, or "out of control." Anxiety, depression, aggression, or other behavior problems can follow. Parents may be blamed for their children's behavior by people who are unaware of the child's "hidden handicap."

Effective treatment for SPD is available, but far too many children with sensory symptoms are misdiagnosed and not properly treated. Untreated SPD that persists into adulthood can affect an individual's ability to succeed in marriage, work, and social environments.


How SPD is treated

Most children with Sensory Processing Disorder (SPD) are just as intelligent as their peers. Many are intellectually gifted. Their brains are simply wired differently. They need to be taught in ways that are adapted to how they process information, and they need leisure activities that suit their own sensory processing needs.

Once children with SPD have been accurately diagnosed, they benefit from a treatment program of occupational therapy (OT) with a sensory integration (SI) approach. When appropriate and applied by a well-trained clinician, listening therapy (LT) or other complementary therapies may be combined effectively with OT-SI.

Occupational therapy with a sensory integration approach typically takes place in a sensory-rich environment sometimes called the "OT gym." During OT sessions, the therapist guides the child through fun activities that are subtly structured so the child is constantly challenged but always successful.

The goal of OT is to foster appropriate responses to sensation in an active, meaningful, and fun way so the child is able to behave in a more functional manner. Over time, the appropriate responses generalize to the environment beyond the clinic including home, school, and the larger community. Effective occupational therapy thus enables children with SPD to take part in the normal activities of childhood, such as playing with friends, enjoying school, eating, dressing, and sleeping.

Ideally, occupational therapy for SPD is family-centered. Parents are involved and work with the therapist to learn more about their child's sensory challenges and methods for engaging in therapeutic activities (sometimes called a "sensory diet)" at home and elsewhere. The child's therapist may provide ideas to teachers and others outside the family who interact regularly with the child. Families have the opportunity to communicate their own priorities for treatment.

Treatment for SPD helps parents and others who live and work with sensational children to understand that Sensory Processing Disorder is real, even though it is "hidden." With this assurance, they become better advocates for their child at school and within the community.

Treatment for Sensory Processing Disorder is a fun, play-based intervention that takes place in a sensory-rich environment. Private clinics and practices, hospital outpatient departments, and university occupational therapy programs are typical places where treatment for SPD or for sensory issues in disorders such as ADHD and Autism may be found. Children are most commonly treated for SPD with occupational therapy (OT) that may be supplemented with listening therapy (LT) or other complementary therapies. Sometimes other professionals such as physical therapists, speech/language therapists, teachers, and/or others who have advanced training in using a sensory integration approach may be involved in treatment.

The most effective treatment for SPD is research-based. Although a great deal remains to be discovered about the disorder, scientists at SPD Foundation and elsewhere already have learned that some intervention strategies are more effective than others. Treatment from a research-based clinic or clinician ensures that these strategies will be put to work for your child or for you.

Effective treatment for SPD also is family-centered. In family-centered care, parents and therapists become partners who assume different but essential roles during treatment. Parents identify priorities and act as the experts on their child. The child's therapists have expertise in therapeutic technique and measure progress toward the family's priorities. Together, the family and the therapist collaborate to develop the best possible program that reflects the family's culture, needs, and values. Treatment from a family-centered clinic or clinician who uses quantifiable outcome measures improves the likelihood that you will benefit and be satisfied with the therapeutic program you choose for your child or yourself.

What is Spina Bifida?

Spina bifida (SB is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The three most common types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges protrude from a spinal opening; and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

Is there any treatment?


There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. Ongoing therapy, medical care, and/or surgical treatments may be necessary to prevent and manage complications throughout the individual's life. Surgery to close the newborn's spinal opening is generally performed within 24 hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.


What is the prognosis?


The prognosis for individuals with SB depends on the number and severity of abnormalities. Prognosis is poorest for those with complete paralysis, hydrocephalus, and other congenital defects. With proper care, most children with SB live well into adulthood.


What research is being done?


The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.