Tag Archives: scoliosis

Scoliosis Awareness

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Scoliosis affects 2-3% of the population, or an estimated 7 million people in the United States, and there is no cure.

Scoliosis impacts infants, adolescents, and adults worldwide with little regard to race or socio-economic status. The primary age of onset for scoliosis is 10-15 years old, occurring equally among both genders. However, females are eight times more likely to progress to a curve magnitude that requires treatment.

Scoliosis can impact the quality of life with limited activity, pain, reduced respiratory function, or diminished self-esteem.

The vast majority of people with this condition are not expected to require treatment. The problem is we do not know who will get it, why they get it, which will progress, or how far they will progress. Each year scoliosis patients make more than 600,000 visits to private physician offices, and an estimated 30,000 children are put into a brace for scoliosis, while 38,000 patients undergo spinal fusion surgery.

Despite physicians trying to treat this spinal deformity for centuries, 85% of the cases are classified as idiopathic. Consequently, a scoliosis patient’s life is exacerbated by many unknowns, and treatments therefore that are often ineffective, invasive, and/or costly. Scoliosis patients also have increased health risks due to frequent x-ray exposure.

Scoliosis is a multifactorial disorder, which requires multidisciplinary research and treatment.

For more information please visit The National Scoliosis Foundation’s website

Aicardi Syndrome

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Aicardi syndrome is a rare neurologic disorder first described by the French neurologist, Dr. Jean Aicardi, in 1965. It occurs almost exclusively in females (46,XX), however, it can also occur in males with Klinfelter Syndrome (47,XXY).  A handful of reports in the literature exist of Aicardi syndrome in a normal male. Some of these reports have been disputed, and it is possible that these cases are caused by mosaic mutations of the Aicardi syndrome gene(s).

What Causes Aicardi Syndrome
The genetic basis or mutation which causes Aicardi syndrome has not been identified despite the efforts of several laboratories worldwide and genetic sequencing of affected children and their parents. Because Aicardi syndrome occurs only in a single member of a family, and virtually all cases are female, the genetic mutation is thought to be a dominant de novo (i.e., spontaneous) mutation in an X-linked gene with lethality in normal (46,XY) males. There are at least 6 sets of twins that are discordant for Aicardi syndrome, and one known set of monozygotic twins and one pair of non-twin sisters that are both affected. Aicardi syndrome in the non-twin sisters is likely due to chance since there have been no other reports of Aicardi syndrome in two siblings.

Features of Aicardi Syndrome
Aicardi syndrome is classically defined in over 90% of cases by three cardinal features:

  • Agenesis (absence of or failed development of a body part) of the corpus callosum
  • Chorioretinal lacunae (punched out lesions in the pigmented layer of the retina)
  • Infantile spasms (a seizure disorder of infancy and early childhood)

In 1999, the diagnostic spectrum of Aicardi syndrome was broadened to include patients with present, but usually abnormal, corpus callosum or absence of infantile spasms or lacunae, if other typical brain abnormalities are present. Specifically, the revised criteria were expanded to include two classic features plus at least two other major or supporting features. Retinal lacunae and seizures are present in all, or almost all, of the cases.  Major and supporting features include:

Major Features

  • Cortical (one of the two types of osseous tissue that form bones) malformations; mostly polymicrogyria (abnormal development of the brain before birth)
  • Periventricular heterotopia (nerve cells [neurons] do not migrate properly during the early development)
  • Subcortical heterotopia (abnormal brain development that is present from birth)
  • Cysts around third cerebral ventricle and/or choroid plexus
  • Papillomas of choroid plexuses (a rare, benign [noncancerous] tumor)
  • Optic disc/nerve coloboma (developmental defect of the eye)

Supporting Features

  • Vertebral and costal (the ribs or the upper sides of the body) abnormalities
  • Microphthalmia or other eye abnormalities
  • “Split-brain” EEG
  • Gross cerebral hemispheric asymmetry.

Involvement of other organ systems besides the brain and eyes are also common but the signs and symptoms are not part of the diagnostic criteria and are not present in all cases. These include:

  • Vascular malformations or vascular malignancy
  • Microcephaly (when a person’s head is significantly smaller than normal for their age & sex)
  • Hypotonia (decreased muscle tone)
  • Spasticity (stiff or rigid muscles)
  • Hypertonia (abnormal increase in muscle tension and a reduced ability of a muscle to stretch)
  • Scoliosis (abnormal curving of the spine)
  • Prominent premaxilla (bilateral cleft lip and palate)
  • Gastroesophageal reflux
  • Feeding problems
  • Small or malformed hands
  • Precocious or delayed puberty
  • Global developmental disabilities

It is generally accepted that the number and severity of features present in a child with Aicardi syndrome is associated with the individual prognosis.

Trisomy 13 syndrome

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Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (two different cell lines in an individual such as normal cells and trisomy cells).

Infants born with Trisomy 13 have a recognizable pattern of physical features that often allows the health professional to make the diagnosis of the syndrome. (Genetic testing must be done to confirm diagnosis.) Notable physical birth defects and, sometimes, anatomic changes of internal organs are present. Findings of significance include small head size (microcephaly); small eyes (microphthalmia) or sometimes an absent eye or faulty development of the retina. Cleft lip or cleft palate or both occur in about 60% of children. In addition, there are a number of less medically significant physical findings that are helpful in diagnosis. These include variations of ear shape, changes on the palm of the hand, and extra fingers and toes. Changes in foot development, including changes to the heel, the so-called rocker bottom foot, can occur.

Heart Defects
About 80% of children with Trisomy 13 will have a congenital heart defect. This can include: ventricular septal defect (VSD), an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is generally heard from this finding); atrial septal defect (ASD), an opening between the two upper chambers of the heart making it difficult for the heart to pump sufficient oxygen-rich blood to body tissues (a heart murmur is often heard); patent ductus arteriosis (PDA), a defect involving the lack of closure of the channel that usually closes near the time of birth and thus remains open; and dextrocardia, which is a location of the heart on the right side of the chest. The majority of heart lesions are usually not those that cause death in the neo-natal period but on occasion more medically serious heart defects can occur in Trisomy 13.

Synonyms:

  • Trisomy 13
  • Patau Syndrome
  • Trisomy 13-15
  • D Trisomy Syndrome

(the last two terms are usually not used at the present time)

Medical Problems
The major implications of Trisomy 13 involve a predisposition to the congenital malformations (birth defects) mentioned above, an increased mortality in infancy and developmental and motor disability in older children. In addition, older infants can have visual difficulties because of the findings mentioned above and a hearing loss. The increased mortality is related to difficulties with breathing due either to interrupted breathing (apnea) or problems of lung development. In addition, gastroesophageal reflux (backward flow of a small amount of stomach contents upward to the throat) and feeding problems can occur and predispose to aspiration (small amount of liquid inhaled or trickled into the lungs) which can precipitate aspirational pneumonia. 

Important and Common Birth Defects in Trisomy 13

  • Omphalocele 10%
  • Holoprosencephaly 60% (an anatomic defect of the brain involving failure of the forebrain    to divide properly)
  • Kidney defects 30%
  • Skin defects of the scalp 20%

Common Disorders in infants and young children with Trisomy 13

  • Feeding difficulties
  • Gastroesophageal reflux
  • Slow post natal growth
  • · Apnea
  • Seizures
  • Hypertension
  • Kidney defects
  • Developmental disabilities
  • Scoliosis

Routine follow-up care of infants with Trisomy 13

  • Routine child care/anticipatory guidance
  • Cardiac evaluation
  • Eye evaluation
  • Hearing test
  • Referral for Infant pre-school/early intervention program
  • Ongoing Support
  • Scoliosis check through childhood
  • Routine immunization including chicken pox