What does CHARGE mean in OPTOMETRY
CHARGE stands for Coloboma of the Eye & Central Nervous System Anomalies, Heart Defects, Atresia of the Choanae, Retardation of Growth and/or Development, Genital and/or Urinary Defects. It is a recognized genetic syndrome with a wide range of manifestations that can be both life-threatening and disabling. The term CHARGE was first coined in 1982 by Dr. Robert J. McEwen, who identified its patterned characteristics and described them succinctly as “Coloboma of the eye, Atresia of choanae, Retardation growth or retardation development, Genital hypoplasia and Ear anomalies” (McEwen 1982). Today this chromosome abnormality is one of the most common congenital syndromes found in newborns.
CHARGE meaning in Optometry in Medical
CHARGE mostly used in an acronym Optometry in Category Medical that means Coloboma of the eye & central nervous system anomalies, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary defects
Shorthand: CHARGE,
Full Form: Coloboma of the eye & central nervous system anomalies, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary defects
For more information of "Coloboma of the eye & central nervous system anomalies, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary defects", see the section below.
Congenital Syndrome
CHARGE Syndrome is a very serious condition that can affect many organs in the body including eyes, ears, heart, skeleton and digestive system. It affects about 1 in every 10,000 live births worldwide causing profound problems from birth onwards. There are two aspects to this disorder; physical symptoms caused by structural abnormalities (such as malformation of facial features) and developmental challenges due to delays or cognitive disabilities related to central nervous system anomalies. Common physical symptoms include cleft palate/lip deformities, narrowing on both sides (choanal atresia) of the nasal passage resulting in breathing difficulties through the nose only), extra fingers or toes (polydactyly), failure to thrive due to poor feeding or swallowing difficulties as well as vision and hearing loss due to coloboma - an opening at back of eyes.
Diagnosis
The diagnosis for CHARGE Syndrome is made upon several criteria being present including; coloboma involving eye structures such as iris or choroid (the vascular layer); choanal atresia; bilateral deafness; craniofacial anomalies such as a small head size (microcephaly) and flattened face profiles; abnormal genital development or absence thereof; growth retardation either before or after birth; heart defects; tracheo-oesophageal fistula also known as TEF which causes difficulty eating food because it’s not able to pass through stomach correctly); additional skeletal abnormalities such as webbing between fingers/toes etc.; other rare features may be presbyterian but often not required for diagnosis confirmation if all other listed criteria are met. During pregnancy ultrasound scans can help detect certain signs such as vertebral column malformations which are often associated with this condition however definitive diagnosis can only be confirmed after birth when further examinations are conducted.
Treatment
Treatment for CHARGE Syndrome varies depending on the severity of each individual case but usually involves a multidisciplinary approach incorporating surgery where appropriate (for example choanal atresia repair), medication for controlling seizures if any present), speech therapy, occupational therapy, music therapy, physiotherapy, ear surgery if hearing impaired) amongst other types allied healthcare interventions available. Where possible rehabilitation techniques should begin shortly after birth so that infants are able start gaining strength gradually until they reach their growth potential. Most children require lifelong care from highly skilled professionals so families need considerable support provide best outcomes long-term. Additionally due its complexity some individuals may require periodic assessment throughout adulthood too.
Essential Questions and Answers on Coloboma of the eye & central nervous system anomalies, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary defects in "MEDICAL»OPTOMETRY"
What is CHARGE Syndrome?
CHARGE Syndrome is a rare genetic disorder characterized by the acronym of Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary defects. It can affect a person's vision, hearing, breathing, heart function and health in general
Final Words:
In conclusion CHARGE Syndrome is recognised congenital condition with wide range lifelong implications including physical deformities possibly affecting different organs along with cognitive disabilities resulting from central nervous system anomalies. Its diagnosis requires meeting several clinical criteria which must all be present order confirm presence – those might vary case by case according severity each patient’s symptoms suspected complications associated with them. Management plans involve treatments tailored individual cases usually integrating multiple disciplines specialties focus holistic care possible. Families individuals affected need continuous access resources appropriate expertise order achieve best possible outcomes lifespan ultimately improving quality life over time.