CHROMOSOMAL & GENETIC DISORDERS
The neurodevelopmental approach does not rely on a diagnosis or label. We evaluate every individual in each of the six areas of development, determine stages that need more work and stages not yet reached, and recommend activities to be completed at home that will complete those stages or advance to new stages – whether they come to us with a label, a long list of labels, or no label at all.
Labels do help facilitate communication, though. They are sometimes a shortcut that allow you to explain quickly the types of struggles you’re dealing with. They also sometimes help us focus our evaluation based on things someone with a particular label usually struggle with. So, even though we don’t care if you have been given a label or not, here are some labels with which we are very familiar and are very comfortable working with. This is not a comprehensive list, so if you don’t see your particular issue or only have a gut feel, not a label, don’t hesitate to contact us.
Down Syndrome (Trisomy 21)
Trisomy 21 comes with some ‘typical’ issues, but a program of developmental activities can help minimize some and avoid others. From reading on grade level to being a three-sport athlete to holding a job, who knows what goals might be achievable?! Our goal is to work with you and your child to help them achieve their God-given potential.
Trisomy 18, also known as Edwards Syndrome, is caused by an error in cell division. When this happens, rather than having a typical pair, there is an extra chromosome 18 in the developing baby. This muddles development in critical ways and can be a matter of life and death before birth. Trisomy 18 occurs in about 1 of every 2500 pregnancies in the United States and affects 1 in 6000 live births.
There are, unfortunately, a significant number of stillbirths that occur in the 2nd and 3rd trimesters of pregnancy due to this syndrome. We are not daunted by the challenges you are facing and would love to work with you as you help your child become all they were created to be.
Angelman Syndrome (AS) is a rare, neuro-genetic disorder. It occurs in one out of every 15,000 births. AS can be misdiagnosed as cerebral palsy or autism simply because of a lack of awareness of the disease. Characteristics you’ll see in a child with AS include developmental delay, lack of speech, seizures, and balance and walking disorders. Those who suffer from AS require lifelong care.
Because our process is the same whether the child comes to us with a diagnosis or without, misdiagnoses don’t throw us for a loop. We just do what we always do – measure the current level of development and propose a series of activities designed to help your child move to the next level.
Fragile X Syndrome (FXS) is a genetic condition causing intellectual disability, as well as behavioral and learning difficulties. Those diagnosed with Fragile X may also exhibit various physical features associated with the disease.
Though FXS can occur in both males and females, males are more frequently diagnosed than females. They also experience more severe symptoms than do females who are diagnosed. There are usually no life-threatening health related issues that come with FXS, yet it can lead to intellectual, behavioral, and physical disabilities. We would love to work with you to minimize the impact of these issues in your child’s life.
Turner Syndrome happens when all or part of one of the X chromosomes in a female is lost before, or soon after, conception. It is not connected to or passed on from either parent and there is nothing a person can do to prevent this from happening. Females can be diagnosed with TS in utero with amniocentesis or at any time, and any age, with a specific blood test called a karyotype.
A karyotype reveals the number of chromosomes found in the cells of a person as well as their appearance. Diagnosis can occur in any stage of a female’s life, yet it is mostly discovered when typical puberty stages are not reached. Whether your child has been diagnosed with Turner syndrome or not, we look forward to helping you overcome or minimize the issues you are dealing with.
Williams Syndrome (WS) is a genetic condition that is present at birth and can affect both males and females around the world. Those diagnosed can experience medical problems such as cardiovascular disease, developmental delays, and learning disabilities. Folks with Williams syndrome often also have some interesting abilities including high verbal ability, “social butterfly” personalities, and a fondness for music.