Additional features include hearing loss, palatal abnormalities, genitourinary abnormalities, cardiac septal defects and congenital diaphragmatic hernias. Growth retardation typically has a prenatal onset, is an almost universal finding in CdLS. The mental retardation in CdLS is often severe, with a mean IQ of 53 (range 30–86) (Kline et al. 1993b). Many patients also demonstrate autistic-like behavior affecting communication and social interaction and self-injurious behavior (Jackson et al.
Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s
If a child has this disease then they usually lose bile ducts inside the liver while narrowing the bile ducts outside. Over time this will lead to bile build up in the liver which damages the liver cells. 30% to 50% children will be left with scarring, which leads to cirrhosis. The symptoms of alagille syndrome are usually pale skin, jaundice, loose stools, and poor growth within the first three month of life. Only later in life during the ages of four through ten will the symptoms stabilize and improve.
Tay-Sachs is a rare, inherited, metabolic disease that is caused by a defective gene on chromosome 15. This defect causes the body to not make a protein called hexosaminidase which leads to chemicals building up. These chemicals destroy the nerve cells in the brain and the spinal cord. Tay-Sachs is also called GM2 gangliosidosis, HexA deficiency, Hexosaminidase A deficiency, and Hexosaminidase alpha-subunit deficiency. Tay-Sachs is most common in infants and children.
There are many ways that Haemophilia can be identified or diagnosed in a patient. When an infant goes through circumcision, if prolonged bleeding continues after the circumcision occurs, that may be the first indication of haemophilia in a baby boy. In boys who aren 't circumcised, easy bruising when the child becomes more mobile may lead to the diagnosis. The first episode of bleeding generally occurs by the time a child is 2 years old. (Mayo Clinic Staff, 2014).
Parry-Romberg Syndrome Parry-Romberg syndrome is an uncommon disease that slows the progressive deterioration of the skin and soft tissues in half of the face. This disease usually affects the left side of the face. The disease is more common to happen to females than males. Some signs that you have this disease are facial changes by the upper jaw, between the nose and upper corner of the lip, change in the angle of the mouth, eyes, brow, ear, and neck. This can also affect the tongue, roof of the mouth, and the gums.
A premature infant may have issues breathing problems due to not fully developed lungs, so they are not able to provide them selfs with enough oxygen to breathe. If the infant 's lungs lack a substance called surfactant, what this does is doesn 't allows their lungs to expand. This is a disorder that rarely occurs with infants that serve a full term inside the womb. RDS is more common in premature babies that are born about 6 weeks before their due dates. This disorder is more common in premature babies because of
What is Cystic Fibrosis? Cystic Fibrosis, also called CF, is a genetic disease. This disease is caused when one has inherited two copies of a faulty gene, one coming from each parent; and it affects mainly the lungs. This disease is usually detected at birth, and is currently not curable.
CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides
Depressed skull fractures are when part of the skull is actually sunken in due to the trauma. Depending on the severity surgical intervention may be required. Diastatic skull fractures occur along the suture lines in the skull. The sutures are areas in between the bones that fuse during childhood, these types of fractures are usually seen in newborns and infants. The last being Basilar skull fracture which is the most serious type.
Additionally, infants on mechanical respiration may develop hyocarbia. Hypocarbia, particularly within the first week of life, appears to be linked to the development of periventricular leukomalacia. Periventricular leukomalacia is often detected during a routine sonogram of a premature infant. However, if it is not detected shortly after birth, the patient can present with a number of clinical signs. Clinical signs of periventricular leukomalacia include seizures, apnea, abnormal muscle tone, and leg weakness.
In this case, there’s not enough information to accurately identify the specific etiology, but there are a few likely factors. Firstly is genetics, the most common cause. When close relatives have had ADHD, or perhaps ADHD runs directly in the family, there is a very likely chance that it will be passed down. My father has ADHD, and as a result, I do as well. ADHD is generally diagnosed in the first 12 years of their lives, when symptoms are at their worst and many of them may occur in the first few years of life.
Imagine having poor eyesight and hearing loss, this is exactly what usher `s syndrome is. Usher`s syndrome weakens its victim’s hearing and eyesight. Usher`s syndrome is genetic which means that is inherited by a child from its parents. The chromosome 3q22.1 of the gene pchd15 is mutated when usher`s syndrome occurs. The symptoms of usher`s syndrome consist of retinitis pigments (which weakens eyesight), hearing loss, blindness during the night, and loss of peripheral vision.