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The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]
Attention deficit hyperactivity disorder; Other names: Formerly: Attention deficit disorder (ADD), hyperkinetic disorder (HD) [1]: ADHD arises from maldevelopment in brain regions such as the prefrontal cortex, basal ganglia and anterior cingulate cortex, which regulate the executive functions necessary for human self-regulation.
A survey conducted by the Centers for Disease Control and Prevention in 2011–2012 found 11% of children between the ages of 4 and 17 were reported to have ever received a health care provider diagnosis of ADHD at some point (15% of boys and 7% of girls), [183] a 16% increase since 2007 and a 41% increase over the last decade. [184]
DAMP is diagnosed on the basis of concomitant attention deficit/hyperactivity disorder and developmental coordination disorder in children who do not have a severe learning disability or cerebral palsy. In clinically severe form, it affects about 1.5% of the general population of 7-year-old-children; 3-6% are affected by more moderate variants.
In the UK, diagnosis is based on quite a narrow set of symptoms, and about 0.5–1% of children are thought to have attention or hyperactivity problems. In comparison, professionals in the U.S. used a much broader definition of the term ADHD until recently. [32] This meant up to 10% of children in the U.S. were described as having ADHD.
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]
The diagnosis of "ADHD, not otherwise specified" also no longer includes any mention of CDS symptoms. [25] Similarly, ICD-10 , the medical diagnostic manual, has no diagnosis code for CDS. Although CDS is not recognized as a disorder at this point, researchers continue to debate its usefulness as a construct and its implications for further ...
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]