Hydrocephaly-MASA Spectrum Analysis

INTRODUCTION. Idiopathic congenital nystagmus, or idiopathic infantile nystagmus is a disease characterized by the rapid, involuntary eye movement. This movement is typically in the horizontal direction, however, movement in other directions have been observed. One way to get nystagmus is through genetic mutations. Nystagmus caused by genetic mutation is seen at a relatively young age but cannot yet be treated. The disease is not understood well, it is believed that the cause is a developmental defect. The linkage, and inheritance has not been identified, the patterns suggest that multiple genes are involved in the disease and that there are loci on different chromosomes with three of the five loci located on the X chromosome. Mutations have been linked to the FRMD7 gene, a gene that consists of 12 exons, of the FERM family. The function of FRMD7 have yet to be determined however an abundance of the protein in the brain in areas associated with the eye. Mutations within this region consist of missense, deletion, tranversion and nonsense mutations. Over forty-four mutations that lead to ICN have been found in the FRMD7 gene. Learning more about the mutation of FRMD7 in ICN is important because these mutations may prevent elongation of neurite processes during differentiation preventing axons from responding to stimuli (Watkins et al. 2012).

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

As a congenital malformation commonly affecting children born with Spina Bifida, the Arnold-Chiari malformation, or Chiari Malformation Type II, involves the irregular extension of both the cerebellar tonsils and the brain stem tissue into the opening to the spinal canal – the foramen magnum (NINDS, 2013). Typically, the brain stem and the cerebellum sit above the opening to the spinal canal, where the brain stem houses most of the cranial nerves that supply the body. Providing the control centres for vital bodily functions such as breathing, regulation of the body’s internal environment through maintenance of heart rate and blood pressure, as well as providing sensory and motor control to a significant portion of the body (Joynt, 2014), the Arnold-Chiari malformation causes substantial problems for patients. Likewise, the congestion of these structures in the spinal canal limits the flow of the cerebrospinal fluid (CSF) from the brain to the spinal cord (Medway, 2006), causing other medical issues that become regularly associated with Spina Bifida as a result, such as hydrocephalus (Columbia Neurosurgery, n.d.). Issues associated with the Arnold-Chiari malformation can only be relieved, rather than treated, through surgical processes that aim to eliminate or reduce these symptoms (WebMD, 2014).

This story follows a 14 year old Indian boy named Arnold Spirit Jr. He was born with hydrocephalus which filled too much cerebral spinal fluid inside his skull. This lead to numerous health problems which included extra teeth in his mouth, awkwardly sized body parts, and random seizures as a child. Since his parents were very poor the hospital couldn’t do as much to help. Junior lived all his life with the Spokane Tribe going to a very low budget school he calls the “Rez”. On page 46 of this book, Junior tells his parents that he’s considering transferring to Reardan, one of the best schools in the state. This was very far away from where they lived but they had much more to offer such as a computer room, a huge laboratory, and two basketball

In most cases, this condition is caused by a genetic abnormality that interferes with brain growth. The child's brain may not have

Microcephaly is a condition that affects infants. It is characterized by a smaller than typical head circumference due to problems with brain development. Typically, as a baby’s brain grows in utero, the head and skull grow as well, however if the brain is not developing as it should, the head will not grow as expected (CDC). It can be caused by genetic disorders such as Down’s syndrome, as well as other chromosomal syndromes and neurometabolic syndromes (NINDS). Microcephaly can also be caused in utero if the pregnant mother abuses alcohol or drugs, or becomes infected with certain viruses.

April 2015, small but deadly outbreaks began in Brazil, South America. Hundreds of Brazilian women infected by the Zika virus, endanger their unborn children to develop a form of brain damage called, Microcephaly. In the early months of 2016, South America’s CDCP (Centers for Disease Control and Prevention) announced the Zika virus has taken full effect, and called for a state of emergency. Researchers today, study the effects of the Zika virus, where it comes/evolved from, and if there is a cure.

Microcephaly is a rare neurological condition in which an infant's head is significant than the rest of the babies of the same age and gender. It can occur because a baby’s brain has not developed properly during pregnancy or has stopped growing after birth. There are over 50 known causes for this rare condition. Microcephaly can occur with no other major birth defects, or it can occur in combination with other major birth defects. There is no telling how long a someone with this condition will live. Some may die after birth and others will live a longer life. Just because they have microcephaly does not mean they can’t live a normal life.

The genetics of neurodevelopmental disorders (NDD) rarely display a Mendelian mode of inheritance, and can result from a single rare gene mutation, more common variations in single nucleotide polymorphisms, or often a combination of these two factors in conjunction with environmental influences [1]. In contrast, epigenetic mechanisms are heritable changes in gene expression which do not change the DNA sequence [1]. Epigenetic changes to the genome may predispose the development of NDD when combined with the aforementioned genetic risk factors [1].

Etiology: The cause of this disorder is due to genetic and/or environmental factors that can inhibit fetal movement before birth resulting in joint contractures. The exact cause of the disorder is still unknown. The extrinsic factors include decreased intrauterine movement, oligohydramnios, defects in fetal blood supply, hyperthermia, or viral infections. Intrinsic factors include defects in muscle and connective tissue as well as neurological abnormalities.

The gene that causes Sandhoff is located in chromosome 5. Sandhoff disease is typically caused by mutations in the HEXB gene. This gene provides instructions for making a protein that a part of two enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These two enzymes are located in lysosomes, which are in the cells that break down toxic substances.4 Sandhoff disease, like Tay Sach’s, is classified into infantile, juvenile, and adult forms. Infantile onset is the most rapidly progressive neurologic dysfunction and normally causes death by age three. Symptoms of infantile onset generally begin the first six to 18 months of life, which include; psychomotor retardation, cherry red spot, blindness, and hypotonia. After the age of two is when the symptoms of macrocephaly and spasticity are demonstrated. Seizures usually begin after the first year of life and are mostly tonic-clonic or myoclonic.11 Juvenile Sandhoff begins to appear around the age of

Moreover, focal cortical dysplasia is a malformation of cortical development. Focal cortical dysplasia is a common cause of intractable epilepsy in children and is a frequent cause of epilepsy in adults. However, FCD includes a spectrum of disordered white and gray matter entities that range from mild cortical disruption to complete derangement of cortical lamination. Patients usually in childhood with refractory partial epilepsy, and subsequent magnetic resonance imaging (MRI) have reveals the area of disordered cortex. Treatment is centered on relieving the seizures and often involves surgical removal of the affected cortex. The defect is thought to arise from a migrational or apoptotic defect occurring early in development. In humans, the

Electroencephalography (EEG) is one of the main techniques for detecting and diagnosing epileptic seizures. Due to large size of EEG data in long term clinical monitoring and complex nature of epileptic seizures, seizure detection is both data-intensive and compute-intensive. Analysing EEG data for detecting seizures at real time has many applications e.g. automatic seizure detection in long EEG data in neurophysiological clinics or timely alarm signal to EEG patient. In real time seizure detection, we have to detect seizures and provide results with negligible delay. Due to this reason, very complex and compute intensive algorithms cannot be used for seizure detection on real time. MapReduce and its variations have been effectively used for

Hydrocephalus most often occurs in children, but may also occur in adults and the elderly.