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...
... middle of paper ...
...syndrome:
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
Deletion is a mutation in which a part of the chromosome or the DNA is absent or lost. It may be inherent, or it may be due to improper chromosomal crossing-over during meiosis. This deletion is responsible for the abnormalities in the patient. One of the known disorders seen due to deletion is the Wolf-Hirschhorn syndrome.
Williams, C. A., & Frias, J. L. (1982). The Angelman (“happy puppet”) syndrome. American journal of medical genetics, 11(4), 453–60. doi:10.1002/ajmg.1320110411
Rett syndrome is a progressive neurological disorder that affects almost exclusively in females. The most basic symptoms include decreased speech, cognitive disabilities, severe lack of muscle control, small head size, and unusual hand movements. A woman with a mutation in her MECP2 gene, has a 50% risk with any pregnancy to pass on her X chromosome with the mutation. It is not common for women with Rett syndrome to have children because the severity of the disorder. The mutated gene on the X chromosome that is responsible for causing Rett syndrome is the methyl CpG-binding protein 2, MECP2 gene. The gene makes a protein that controls other genes. When a mutation occurs in the MECP2, the protein it makes does not work properly. This is thought to counteract normal neuron, nerve cell development. The severity of the syndrome in females is related to the type of mutation in the MECP2 gene and the percentage of cells that carry a normal copy of the MECP2 gene. Rett syndrome is believed to affect all ethnic groups and nationalities with an equal frequency of about 1 case for every 10,000 to 15,000 live female births.
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 neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008). In my paper, I will give a brief history of how Rett syndrome was first noticed, discuss the dysfunction in the brain, the development and behavior, and possible treatments.
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.
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...
Pervasive Developmental Disorders are characterized by “severe and pervasive impairment in several areas of development” (Tsai, 1998). In the 1994 edition of the Diagnostic Statistic Manuel version IV, three new categories were introduced under Pervasive Developmental Disorders. These include: Childhood Disintegrative Disorder, Asperger's Disorder, and Rett's Syndrome (Volkmar, 2005). All these disorders occur in early childhood and are often not noticed by a parent or primary caregiver until it is noticed that the child is not achieving normal developmental milestones.
the baby is at any subsequent risk of having DS for early prognosis and intervention. Cognitive
Pauc, R. (2010). The Learning Disability Myth: Understanding and overcoming your child’s diagnosis of Dyspraxia, Dyslexia, Tourette’s syndrome of childhood, ADD, ADHD, or OCD. London: Virgin Books.
Rett syndrome was discovered after a pediatrician in Vienna, Austria, Dr. Andreas Rett, in 1966. The recognition of this syndrome began when Dr. Rett saw two girls sitting in the waiting room of his office demonstrating similar hand-wringing movements. After forward investigation, he was able to find other patients in his practice with characteristics similar to those of the two little girls. He then published a study describing the syndrome but it had very little attention. In the early 1980’s,Rett syndrome was officially known and named after Begnt Hagberg noticed very similar cases to those described in Dr.Rett’s article.
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 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.
specific learning disabilities in the United States of America. The Journal of International Association of Special Education, 10(1), 21-26.
During the late 1980’s and 1990’s the number of children with learning disabilities receiving special education services grew rapidly, but during 1998 and 2007 the number of children classified as having a LD has declined by 7% (Cortiella, 2009). “In 2007, 59% of students with LD spent 80% or more of their in-school time in general education classrooms. In 2000, that figure was just 40%” (Cortiella, 2009). In addition, students with disabilities are spending more time with students in traditional classroom settings. According to the Department of Education, “approximately 6 million children (roughly 10 percent of all school-aged children) receive special education services” (Pardini, 2011).