Pediatric metabolic syndrome predicts CVD in later life

The cardiovascular risk factors that contribute to the metabolic syndrome are associated with future cardiovascular disease (CVD) in adults; however, it is not known whether the presence of these risk factors in childhood predicts CVD in adult life.
Children aged 5–19 years were evaluated for lipid characteristics, BMI, blood chemistry values, blood pressure and family history of CVD in the initial LRC study period. The PFS established the CVD status of 771 participants from the initial study.
The mean age of participants in the PFS was 38.4 years. Of the 31 patients who had pediatric metabolic syndrome in the LRC study, six (19.4%) experienced CVD during the intervening period compared with an incidence of 1.5% for participants who did not have metabolic syndrome in childhood. Multivariate analysis showed that pediatric metabolic syndrome (odds ratio [OR] 14.7, P <0.0001) and age at follow-up (OR 1.2, P = 0.03) were significant predictors of CVD, whereas sex, race and family history of cardiovascular disease were not.
Pediatric metabolic syndrome predicts CVD during the subsequent 25 years of life. This results highlight the importance of preventative interventions in childhood and early adult life, particularly with regards to weight and BMI control.

Angelman syndrome

Angelman syndrome is a genetic disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking and, in some cases, seizures. Frequent smiles and outbursts of laughter are common for people with Angelman syndrome, and many have happy, excitable personalities.
If your child has Angelman syndrome, you may not see any signs at birth. Angelman syndrome usually isn't detected until parents begin to notice developmental delays when a baby is about 9 to 12 months old. Seizures often begin when a child is between 2 and 3 years old.
There's no cure for Angelman syndrome. Treatment for Angelman syndrome often includes medication and other therapies.

Characteristic Angelman syndrome symptoms include:

* Developmental delays, such as lack of crawling or babbling at 9 to 12 months, and mental retardation
* Lack of or minimal speech
* Inability to walk, move or balance well (ataxia)
* Trembling movement of arms and legs
* Frequent smiling and laughter
* Happy, excitable personality

People who have Angelman syndrome may also have other signs and symptoms, including:

* Seizures, usually beginning between 2 and 3 years of age
* Stiff or jerky movements
* Small head size (microcephaly)
* Crossing of the eyes (strabismus)
* Flatness in the back of the head
* Tongue thrusting
* Walking with arms up in the air
* A lower jaw that juts out
* Light pigmentation in hair, skin and eyes (hypopigmentation)

Angelman syndrome is a genetic disorder. It's most often caused by problems with a gene located on chromosome 15 called the UBE3A gene.

Genes are segments of DNA that provide the blueprints for all of your characteristics. You receive your genes, which occur in pairs, from your parents. One copy comes from your mother (maternal copy) and the other copy comes from your father (paternal copy).

A missing or defective gene
Both genes in a pair usually are active. This means that information from both the maternal copy and the paternal copy of each gene pair are used by your cells. But in a small number of genes, only one copy of a gene pair is active. The activity of each gene copy depends on whether it was passed from your mother or from your father. This parent-specific gene activity is called imprinting. In these genes, when the copy that is usually active is missing or defective, it causes problems in the functions and characteristics controlled by that gene.
Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal chromosome 15, which contains this gene, is missing or damaged. In a small number of cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one paternal and one maternal copy (paternal uniparental disomy).

Angelman syndrome is rare. In most cases, researchers don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease. In a small percentage of cases, however, Angelman syndrome may be inherited from a parent, so a family history of the disease may increase a baby's risk of developing Angelman syndrome.
Most babies with Angelman syndrome don't show signs or symptoms of the disorder when they are born. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 9 and 12 months.

If your child seems to have developmental delays, or if your child has other signs or symptoms of Angelman syndrome, make an appointment to talk with your child's doctor.
Your child's doctor may suspect Angelman syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with movement and balance, small head size and flatness in the back of the head, along with frequent laughter.

Confirming a diagnosis of Angelman syndrome requires taking a blood sample from your child for genetic studies. A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may include:

• Chromosome analysis (karyotyping). In this test, the size, shape and number of chromosomes in a cell sample are examined.
• Fluorescent in situ hybridization (FISH). This test can show if any chromosomes are missing.
• 
  DNA methylation test. This test reveals a gene's imprinting pattern. Normal results show both a paternal and maternal DNA pattern. A person with Angelman syndrome shows only a paternal pattern in the affected gene.

Because there isn't a way to repair chromosome defects, there's no cure for Angelman syndrome. Treatment focuses on managing the medical and developmental problems that the chromosome defects cause.
A team of health care professionals will likely work with you to manage your child's condition. Depending on your child's signs and symptoms, treatment for Angelman syndrome may involve the following:
Anti-seizure medication. Medication may be necessary to control seizures caused by Angelman syndrome.
Physical therapy. Children with Angelman syndrome may learn to walk better and overcome other movement problems with the help of physical therapy.
Communication therapy. Although people with Angelman syndrome usually don't develop verbal language beyond simple sentences, communication therapy can be helpful. Nonverbal language skills may be developed through sign language and picture communication.
Behavioral therapy. Behavioral therapy can help children with Angelman syndrome overcome hyperactivity and a short attention span, which can aid in developmental progress. Although the level of development people with Angelman syndrome can achieve varies widely, many are outgoing and are able to build relationships with friends and family.

In rare cases, Angelman syndrome may be passed from affected parent to child through defective genes. If you're concerned about a family history of Angelman syndrome, or if you already have a child with Angelman syndrome, you may wish to talk to your doctor or a genetic counselor for help planning future pregnancies.