In 1963, Lejeune et al. introduced Cri du Chat (CCS), a rare genetic syndrome that results from a partial or total deletion on the short extension of the 5p (5p15.1—5p15.3) chromosome. This chromosomal loss results from a “de novo” mutation (parents have a normal karyotype) and causes altered brain development, resulting in microencephaly and delayed psychomotor development (Mainardi, 2007). Though CCS is rare, it is one of the most prevalent chromosomal deletion syndromes (i.e. incidence is 1:15,000 to 1:50,000 live births) with slightly more females being affected, but with no significant differences pertaining to race or geographic area (Rodriguez-Cabalerro, 2010). Further, the incidence of CCS amongst the mentally retarded is less than 1 percent and no direct association between CCS and birth order, age of parents, or significant prenatal events has been established (Rodriquez-Caballero, 2010). Diagnosis is critical and is effectuated through karyotype analysis followed by molecular-cytogenetic analysis (FISH); two types have been identified, atypical and typical (i.e. atypical types present with unaffected/deleted critical regions of the chromosome, and, therefore, do not suffer significant learning delays). Through early diagnosis, rehabilitation, preventative techniques, and surgical interventions, motor and mental functioning can increase, which can lead to improved social functioning and a sense of autonomy (Rodriquez-Caballero, 2010).
Cri du Chat is highly variable from individual to individual, but is often characterized by low birth weight and small size, despite a full-term pregnancy; growth and development during the first two years is markedly delayed due to feeding difficulties (e.g. dysphagia, muscle hypo...
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A critical review. Clinical Linguistics & Phonetics, 22(6), 443-443.
doi:10.1080/02699200801892108
Mainardi, P. C., Medolago L. M., Pedrinazzi M. (2007). The Cri Du Chat Syndrome. A.B.C. The Cri Du Chat Children's Association. Retrieved from http://www.criduchat.it/documents/ABCSCDCBookEN.pdf
Pituch, K. A., Green, V. A., Didden, R., Whittle, L., O'Reilly, M. F., Lancioni, G. E., & Sigafoos, J. (2009, November 26). Educational Priorities for Children with Cri-Du-Chat Syndrome. Journal of Developmental and Physical Disabilities, 22(1), 65-81. doi: 10.1007/s10882-009-9172-6
Rodriguez-Caballero, A., D. Torres-Lagares, A. Rodriguez-Perez, Ma.
Serrera-Figallo, Jm. Hernandez-Guisado, and G. Machuca-Portillo. (2009) Cri Du Chat Syndrome: A Critical Review. Medicina Oral Patología Oral Y Cirugia Bucal, E473-478. doi:10.431 7/medoral. 15.e473
What are the benefits of implementing early intervention and RTI’s for children with early signs of a learning disability? This is a serious topic because of the increase over the years of children with learning disabilities. Instead of just placing students in special education programs educators must assess and evaluate students. As well as try early intervention programs and responsiveness to intervention known as RTI to try to delay the disability or stop the disability from forming and progressing. I have gathered articles that show the implementing of early intervention programs and RTI models to enhance children that show signs of an early learning disability. The articles all show how these programs can help students progress in academics as well as behavior areas in the classroom.
Taylor, Steven J. "The continuum and current controversies in the USA." Journal of Intellectual & Developmental Disability 26.1 (2001): 15-33. Academic Search Premier. EBSCO. Web. 5 Apr. 2011.
The paper that I’m writing is on Rett Syndrome. Rett is a rare and severe ‘girls only” form of autism. What is Rett you ask? Well it is neurodevelopment that is found in girls. If you are diagnosed with it they can feel overwhelmed, there is no cure for this disease. You are normally diagnosed with it in the early years (first 2 years of life). There are 4 stages of Rett 1 being the least dramatic case and 4 being the severe. The disorder was identified by Dr. Andreas Rett in 1966, but was not until 1983 when it was started to be researched by Dr. Bengt Hagberg. Apraxia is perhaps the most severely disability of Rett Syndrome that interfering with movement and speech, and eye sight.
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
This realization and knowledge has presented itself in the most realistic way just within the past three years, while I continually helped disabled children learn various life skills. In these three years, my attention was unforgivably snagged by one child, Damion, who seemed to have an unfathomable web of trials and difficulties in his fragile little life. On an undying attempt to learn more about this child, I started working with him one-on-one and with his therapists and teachers. I soon came to realize that Damion had moderate to severe learning disabilities, speech impediments, fine (small muscles) and gross (large muscles) motor problems and sensory difficulties. His previous doctors considered Kabuki Syndrome, an extremely rare disease that is terribly difficult to diagnose, as a possible diagnosis.
The walking dead does in fact exist. However, it is not the flesh eating zombie that many think about when hearing the term ‘walking dead.’ Instead, it is a rare and serious mental disorder also known as Cotard’s Syndrome. “In 1880, Jules Cotard (1840-1889) described the syndrome that bears his name as a constellation of false nihilistic beliefs, often in the form of self-negation.” (Ramirez-Bermudez, Aguilar-Venegas, Crail-Melendez, Espinola-Nadurille, Nente & Mendez, 2010) Throughout time there has been many controversies regarding what causes this disease. Cotard’s Syndrome was finally divided into three groups in 1995 as psychotic depression, Cotard’s Syndrome Type I, and Cotard’s Syndrome Type II.
Lynch, S., & Irvine , A. (2009). Inclusive education and best practice for children with
More methods have been developed to assist in the identification and diagnosis of disabilities. Professionals are beginning to understand what might have caused a child to develop their disability. The more that is learned, the better I can help m y students with these disabilities. Knowledge helps create strategies individualized to the student. Even in the past ten years, there has been much advancement in the assessment and monitoring of these students. They are being seen as people and not their diagnosis. Many are held at the same stan...
Lerner, J W., Lowenthal, B, & Egan, R W. (2003). Preschool children with special needs (2nd ed.). Boston, MA: Allyn and Bacon Publishing.
The term Pervasive Developmental Disorder (PDD) refers a group of disorders that pertain to one’s communication, social, and developmental skills. Symptoms can be detected as early as infancy, as some cases are identified before the age of three. Children or toddlers with PDD may show difficulty relating to others and often have trouble using and understanding language. In addition, they may have unusual behavior patterns and demonstrate resistance during a change in their routine. PDD is a general category that includes Autism, Asperger’s Syndrome, Rett Syndrome, Childhood Disintegrative Disorder, and PDD-NOS. These disorders exhibit a range of patterns and characteristics, proving that no child is the same. While one child may be high-functioning, another may completely lack language skills.
High Incidence disabilities are mild disabilities that affect most of the special education students in schools today. “Approximately 36 percent of all students with disabilities served under IDEA have specific learning disabilities.” (Turnbull, Turnbull, Wehmeyer & Shogren, 2016 p. 104)The three areas that fall under the title of a high incidence disabilities are learning disabilities, mild intellectual disabilities, and emotional/ behavioral disorders. Students with high incidence disabilities are taught and spend most of their time in the general education classroom. They are supported in the classroom with accommodations, modifications, paraprofessionals and related services to help them succeed. They may spend a portion of their day receiving support from a special education teacher, or another related service providers such as a speech pathologist, physical therapist, occupational therapist, or social worker outside of the classroom. It becomes apparent when students start school which ones have a high incidence disability. This is because when they start school educators begin to notice they are different from their peers sometimes socially, behaviorally, or they begin to struggle academically. They all share some similar traits such as a short attention span and lower academic skills in certain areas or subjects. They may also have difficulties with their behavior or social development. At that point they may be referred to for testing or an evaluation to see what might be going on with the student.
specific learning disabilities in the United States of America. The Journal of International Association of Special Education, 10(1), 21-26.
Mazurek, K. & Winzer, M.A. (Eds.). (1994). Comparative Studies in Special Education. Washington, DC: Gallaudet University Press.
United Nations Educational, Scientific, and Cultural Organisation. (1994). The Salamanca Statement and Framework for Action on Special Needs Education. Retrieved from http://www.unesco.org/education/pdf/SALAMA_E.PDF