Prader- Willi Syndrome
Prader-Willi is a rare genetic disorder in which seven genes on Chromosome 15 are deleted or not expressed on the paternal chromosome. Characteristics include low muscle tone, short stature, problem behavior, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
Neurofibromatosis – Type 1 (NF-1)
Caused by a mutation on Chromosome 17, NF-1 causes tumor growth along the nervous system leading to sclerosis, learning disabilities, vision disorders, and epilepsy. Neurofibromatosis (Type 1) is one of the most common single-gene disorders affecting neurological function in humans.
Asperger’s Syndrome is an Autism Spectrum Disorder characterized by significant difficulties in social interactions and nonverbal communication alongside restricted and repetitive patterns of behavior and interests. Asperger’s differs from other Autism Spectrum Disorders by its relative presentation of linguistic and cognitive development, physical clumsiness, and atypical use of language are frequently reported.
ASD (Autism Spectrum Disorder)
Autism Spectrum Disorder encompasses a range of neurodevelopmental disorders as classified in the DSM-V to include Autism, Asperger’s, Childhood Disintegration Disorder, and Rett Syndrome.
Caused by the presence of an extra Chromosome (Chromosome 21), Down Syndrome presents with physical growth delays, characteristic facial features, and mild to moderate intellectual delay.
ADHD (Attention Deficit Hyperactivity Disorder)
Usually defined by a combination of attention, hyperactivity, and impulsive actions not appropriate to a person’s age, symptoms typically present between 6-12 years of age, and must be present for more than six months for a diagnosis to be made. ADHD affects 6-7% of children according to the DSM-IV.
Dyslexia is a specific learning disability that is neurological in origin and impacts word recognition, reading and decoding abilities. It is believed to be present in up to 10 percent of the U.S. population.
Dyslexia typically results from a deficit in the phonological component of language that is often unexpected in relation to other cognitive abilities and the provision of effective classroom instruction. 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. It isn't uncommon for children who have Dyslexia to also have Developmental Dyspraxia, but the existence of the latter is often overlooked or not understood. Additionally, because Dyslexia or reading dysfunction frequently occurs in children who have X & Y Chromosomal Variations, it's important to rule out a chromosomal cause for Dyslexia.
With the proper diagnosis and help, these children do succeed at higher education and lead productive, independent lives.
More than 500,000 people in the United States are believed to have a chromosome anomaly. Research reveals that 7 out of 10 children with XXY, XXX and XYY chromosomal disorders are undiagnosed, with only 10 to 20 percent identified from amniocentesis performed due to advanced maternal age.
Although these disorders are associated with language-based learning disabilities, children remain largely undiagnosed because their neurodevelopmental problems are often perceived as "just a speech delay" or "just clumsiness," or "just laziness" or, "he's a boy. he'll catch up."
Developmental Dyspraxia, also called Dyspraxia or Childhood Apraxia of Speech, is characterized by impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear "out of sync" with their environment.
Symptoms vary and may include poor balance and coordination, clumsiness, perception hardships, emotional and behavioral challenges, poor social skills, atypical posture, problems with short-term memory and difficulty with reading, writing and speaking. Although children with the disorder may be of average or above average intelligence, they may behave immaturely.
While the prevalence of Developmental Dyspraxia in the general population is unknown, we do know that it occurs four times more often in boys than in girls. Children failing in school is a common concern today; it's likely that many of these boys and girls have Developmental Dyspraxia or an X & Y Variation, or both.
As a neurogenetic disorder, X & Y Chromosomal Variations are collectively known by many names, among them: Sex Chromosome Disorders, X & Y Variations, Sex Chromosome Anaomaly and Sex Chromosome Aneuploidy. Within the disorder are many sub-categories, which are identified by names including Klinefelter's Syndrome, 49 XXXXY, Tetrasomy X, 49 XXXX, Paentasomy X, 48 XXY and 47 XXY.
X & Y Variations are common but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings of XX for females and XY for males. Due to a chromosomal mistake that produces additional X or Y chromosome to the normal complement of 46, the resulting total of 47 chromosomes (or more) may impact all aspects of a child's developing central nervous system and his or her body condition.
Widespread misinformation about these conditions cause unnecessary distress to families dealing with such a diagnosis. Contrary to common belief:
These findings are important for diagnosing syndromes, identifying related medical issues and developing appropriate, targeted treatment plans for educational and neurodevelopmental success. For instance, the following disorders are frequently present in children who exhibit developmental and learning differences. Dr. Samango-Sprouse is especially regarded for her expertise with these conditions, which are the focus of The Focus Foundation, a not-for-profit educational and research foundation created in 2005 by Dr. Samango-Sprouse.
Look at the child's learning style, neurocognitive ability
and developmental differences.
Evaluate neurodevelopmental performance.
Assess the integrity of motor function.
Recognize unique learning styles.
Navigate the medical and educational systems.
Know that the Neurodevelopmental Diagnostic Center for Young Children believes that every child can learn, improve, and succeed in both life function and scholastic ability.
Children who exhibit the following symptoms are considered "atypical learners" and could possibly have an X & Y Chromosomal Variation, Developmental Dyspraxia and/or Dyslexia.
It's believed that 40 percent of all children with developmental delays will be diagnosed with a neurogenetic disorder. Parents with a child who has developmental delays or developmental dysfunction should consider asking their child's primary care provider to do a cheek swab or to draw blood to check a karyotype (also called a chromosomal analysis) or provide a referral to a clinical geneticist for an evaluation. Such an evaluation and lab testing should: