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Dyslexia

Dyslexia is a specific learning disability that is neurological in origin and more common in boys than girls about 4 to1. Dyslexia is quite common in the general population and is believed to be present in up to 17 percent of the U.S. population.

Dyslexia typically results from a deficit in the phonological component of language so children with dyslexia are unable to “hear or decipher” the difference between sounds such d or t or b or p. Their spelling is often phonetic so they spell words as they sound rather than as expected based on the rules of the language. The acquisition of reading is extremely challenging and several areas may be effected. Typically, there are four primary areas that may be challenging which include: decoding (sounding it out), fluency (how fast you read), accuracy (reading words correctly) and comprehension (understanding what you read).

The reading dysfunction is unexpected deficit in relation to other cognitive abilities. Secondary consequences may include problems in reading comprehension and reduced reading experience that can impede the growth of vocabulary and knowledge, which increases the likelihood of academic failure and poor self-concept.

Children with Dyslexia struggle academically but are not “dumb” or “lazy.” While Dyslexia is often debilitating if not addressed, the condition can be successfully managed and even overcome. Children with dyslexia learn differently but are intellectually competent and highly successful when identified early and treated aggressively.

Dyslexia or reading dysfunction is extremely common in children with X and Y chromosomal disorders. Dyslexia often co-occurs with developmental dyspraxia. Therefore, children diagnosed with dyslexia should be screened for X and Y chromosomal disorders using a chromosomal analysis. If the dyslexia and XY disorders co-occur, then there are many changes that can and should happen. For the boys with 47,XXY, biological treatment should be discussed with your pediatrician and a pediatric endocrinologist as soon as possible. If the child has 47,XYY or 47,XXX then several specific reading programs are should be implemented ( we need link to FFW)

Since developmental dyspraxia may occur with dyslexia, it should evaluated and determined if it is present. If developmental dyspraxia is evident with dyslexia, treatment goals, objectives and intervention strategies should be adjusted accordingly.

OUR FOCUS

  • To identify children with Dyslexia who also have an X & Y Chromosomal Variations as early as possible
  • To detect children with Dyslexia who also have developmental dyspraxia
  • To determine the characteristic profile that places children “at risk” factors for dyslexia between three and five years of age

Our X & Y Disorder Research

The Focus Foundation’s efforts are geared toward 3 of the 4 known X & Y Variation disorders. The fourth, called Turner Syndrome, occurs in one out of 2,000 live female births and is actively and effectively served by The Turner Syndrome Society. Of the other three variations:

47,XXY (occurs in 1 out of 650 live births)

Only 25% of males with 47,XXY are ever diagnosed during their lifetimes; fewer than 10% of 47,XXY individuals are identified prior to adolescence. This means that millions of affected children remain undiagnosed–often because they are commonly misdiagnosed as simply having speech or motor delays. More than 500,000 people are believed to have 47,XXY disorders in the United States alone, with an equal distribution across all racial and socio-economic groups.

Testosterone replacement has been shown to have a positive impact on brain function through 9 years of age in multiple research studies over the last 20 years. Thus, it is important to consider early hormonal replacement therapy (EHT) for 47,XXY boys who experience decreased testosterone production during critical developmental periods.…READ MORE

47,XYY (occurs in 1 out of 1,000 live births)

At least 85% of those with 47,XYY are never diagnosed. 47,XYY boys consistently present with language-based Learning Disabilities and difficulties with Motor Planning–both issues that are related to the high rate of dyspraxia and dyslexia associated with the disorder. However, 47,XYY boys are commonly misdiagnosed as simply having speech or motor delays.

Boys with 47,XYY typically reach an average height of between 6’3” and 6’5”…READ MORE

47,XXX (occurs in 1 out of 900 live births)

As many as 1 in 900 girls have 47,XXX. Unfortunately, millions of affected girls are undiagnosed. Girls who are prenatally diagnosed and receive early intervention services typically exhibit fewer and less severe cognitive disabilities.

There is an equal distribution of 47,XXX across all racial and socio-economic groups…READ MORE

48,XXYY (occurs in 1 out of 18,000 live male births)

Boys with 48,XXYY consistently exhibit Language-Based Learning Disabilities (LLD) and difficulties with Motor Planning, issues that are related to the high rate of dyslexia associated with the disorder. However, they seem to be stronger in math and such visual-spatial activities as assembling puzzles or remembering directions.

Intellectual disabilities are common in 48,XXYY, with average full-scale IQs in the range of 70-80. Verbal IQs are seen to be significantly lower than performance IQs, due to language-based learning difficulties…READ MORE

48,XXXX (100 cases have been reported)

48,XXXX (also known as Tetrasomy X or Tetra X) is a rare sex chromosome disorder that was first identified in the early 1960s. Since that time, approximately 100 cases have been reported, although less than 50 are described in scientific literature. Due to the scarcity of this female chromosomal variation, it is difficult to define a common phenotypic presentation. A lack of congenital malformations, mild dysmorphology, and varied developmental trajectory suggests that 48,XXXX is largely underdiagnosed…READ MORE

48,XXXY (occurs in 1 in 18,000 to 1 in 40,000 male births)

48,XXXY can result from meiotic or mitotic nondisjunction (errors in chromosomal separation) and is often considered a variant of Klinefelter syndrome (47,XXY). However, boys with 48,XXXY often exhibit a more complicated neurodevelopmental profile than boys with 47,XXY…READ MORE

49,XXXXY (occurs in 1 in 85,000 to 1 in 100,000 live male births)

The first case of 49,XXXXY syndrome was reported in the 1970s, and this chromosomal variation remains one of the rarest sex chromosome disorders. 49,XXXXY results from nondisjunction (errors in chromosomal separation) of the X chromosome occurring during both Meiosis I and Meiosis II…READ MORE

49,XXXXX Pentasomy X (40 females reported since 2011)

Penta X Syndrome is an extremely rare chromosomal disorder that only affects females. While girls normally only have two X chromosomes, girls with Penta X have five X chromosomes. As of 2011, less than 40 cases have been reported.…READ MORE

Klinefelter Syndrome & Other Names You May hear

X & Y Chromosomal Variations are a neurogenetic disorder referred to by many other names, including Sex Chromosome Disorders, X & Y Chromosomal Variations, Sex Chromosome Anomaly, and Sex Chromosome Aneuploidy Variations. (Aneuploidy refers to a number of chromosomes besides 46, the standard number in humans.) The sub-categories that exist within X & Y Chromosomal Variations are identified by names that include 47, XXY (Klinefelter syndrome), 47, XYY (Jacob’s syndrome), 47, XXX (Triple X), 49, XXXXY, Tetrasomy X, Pentasomy X, 49, XXXXXX, and 48, XXXY.

What You Can Do Now

If you have had a prenatal diagnosis or feel you may have a child with developmental delays or developmental dysfunction the following options are designed to help you towards the next step in treatment or early diagnosis.

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RESEARCH

Take The Child Questionnaire
QUESTIONNAIRE

DIAGNOSIS

Learn About Chromosomal Microarray
CHROMOSOMAL TESTING

TREATMENT

Syndrome-specific Therapy
ARRANGE A CONSULTATION
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