Sanfilippo Syndrome Research Paper

It will also provide reasons for considering and further assessing the potentiality of the presence of Somatic Symptom Disorder. Finally, it will examine the cultural aspects of the case and diagnosis.

In Moriwaki’s ASPD Medical Report, it states, “term. Moriwaki was difficult as an infant and toddler demanding of parents’ time and attention. Behaviors escalated with the birth of younger brother when Moriwaki was 5 years old. Problem behaviors escalated to

The cause of this condition is not known. RISK FACTORS This condition is more likely to develop in: • Children aged 3–15 years. • Boys.

Paget Disease of Bone Paget disease is a condition that makes the bones grow faster than normal. This leads to bones that are larger and weaker than normal. Healthy bones rebuild themselves by destroying old bone and replacing it with new bone tissue. This process usually slows down as a person gets older.

Discovered in 1989, Cystic Fibrosis is the most common, fatal genetic disease in the United States. Statistics show that 30,000 people in the US have been named with this disease. (Genome) Cystic Fibrosis is a disease caused when the CFTR (Cystic Fibrosis Transmembrane Regulator) is defective and the cells do not release the right amount of chloride. This causes for the body to produce thick, sticky mucus that clogs up the lungs, leads to infection, blocks the pancreas, which stops the digestive enzymes from reaching the intestine. Symptoms require; salty tasting skin, wheezing, shortness of breath, persistent coughing, poor growth or weight gain, frequent/bulky stool, and male infertility.

Osteogenesis Imperfecta is a disorder of the bones which causes the bones to be very weak and fragile. The bones are weak due to poor quality or absence of collagen produced by the body. Usually this disease is inherited by the parents due to a genetic mutation. Osteogenesis imperfecta is usually present at birth.

Bruising on non- mobile babies. Burns, bites and scars or unusual shaped scars and fractures. Neglect--Undernourished, dirty skin and hair, dirty or soiled clothing, inappropriate clothing for the weather, hunger and stealing food, tiredness, being withdrawn, being left unsupervised and not being given any medical care. Sexual abuse--Recurrent urinary infections, genital and rectal itching and soreness, inappropriate behaviour regarding age and ability, inappropriate level of sexual knowledge, and sexual abusive behaviour toward others, lack of trust, regression, become isolated and

• Mild learning disabilities. • Impulsive behaviors that are difficult to control. • Tantrums. • Overactivity. DIAGNOSIS Sotos syndrome may be diagnosed soon after birth or later in childhood if developmental delays occur.

The signs and symptoms of myelomeningocele and meningocele are quite obvious, consisting of a sac of nerves and/or spinal cord protruding from the lower back. Spina bifida occulta often has no signs or symptoms, since many people who have it are not even aware of it. However, sometimes visible indications can be seen on the baby’s skin above the spinal defect. These can include abnormal tufts of hair, a collection of fat, or a small dimple or

a deadly disease caused by

Some children have symptoms that are quite severe while others are rather mild. Signs and symptoms of FAS can include any combination of physical defects, cognitive disabilities and challenges coping with daily living. The Mayo Clinic website has very helpful descriptions of the symptoms of FAS. Some symptoms are physical while others include brain and central nervous system problems. Social and behavioral issues can be a problem as children grow and learn.

Sickle cell anemia is a genetic disorder it is also known as sickle cell disease. A genetic disorder is something that is passed down from parent to child. This is a disease of the hemoglobin. Hemoglobin is a red protein responsible for transporting oxygen in the blood of vertebrates. Sickle cell anemia causes your red blood cells to stiffen, although your red blood cell are supposed to be flexible.

The signs and symptoms are lethargy, irritability, vomiting, poor sucking or swallowing, seizures, difficult breathing, altered consciousness, unequal pupil size, and inability to lift head.

(Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with Fragile X also suffer from frequent ear infections and sinusitis, low muscle tone, gastro-esophageal reflux connective tissue issues such as scoliosis, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints. Children with Fragile X also display specific behavioral characteristics. Behavioral disorders such as ADD, ADHD, autism and autistic behaviors are common in these children. (Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with fragile X often exhibit social anxiety and other autistic behaviors such as hand-biting and/or flapping, poor eye contact, sensory processing disorders and social aggression.

BOUVIER DES FLANDRES ORIGIN AND HISTORY It is almost impossible to trace the origin of the Bouvier des Flandres. During the last decade of the nineteenth century a program of selective breeding of the dog’s native to Belgium was begun under the guidance of Professor Adolph Reul, a veterinary surgeon and author of “Les Races de Chiens” (1894). The Bouvier is mentioned, “for the most part, a shepherd dog or a dog that resembles him in general make-up but who is bigger, fiercer, more aggressive and has a bolder look.”