TYPES OF GENETIC DISORDERS
AUTISM
Symptoms:
- no babbling or pointing by age 1
- no single words by 16 months or two-word phrases by age 2
- no response to name
- loss of language or social skills
- poor eye contact
- excessive lining up of toys or objects
- no smiling or social responsiveness.
- has difficulty making friends
- has trouble starting conversations with others
- does not do imaginative or social play
- stereotyped, repetitive, or unusual use of language
- certain patterns of interest that are intensely focused on
- is preoccupied by certain object/s
- refuses to change rituals or daily routines
Cause:
Scientists aren’t positive what causes autism, but it’s most likely that a person's genes and their environment that determine whether or not they have ASD (Autism spectrum disorder). There have been a number of genes associated with the disorder. People with ASD have often been found with irregularities in regions of their brain. Other times, studies suggest that people with ASD have abnormal levels of serotonin or other neurotransmitters in the brain. Studies like these suggest that ASD could result from disruption of the brain during early fetal development, caused by defects in genes that control brain growth and how brain cells communicate. This might be due to the influence of environmental factors on gene function.
Inheritance: Scientist are not certain what causes autism, but they think that genes and environment both play a big role.The causes of autism may be divided into 'idiopathic', (of unknown cause) and 'secondary’, in which a chromosome abnormality, single-gene disorder or environmental agent can be identified. Approximately 15% of individuals with autism can be diagnosed with secondary autism, while the remaining 85% have idiopathic autism. When the cause of autism is a chromosome abnormality or a single-gene alteration, the risk that other brothers and sisters will also have autism all depends on the genetic cause. The risk that a brother or sister of an individual who has idiopathic autism will also develop autism is around 4 percent. Brothers have a higher risk (about 7 percent) of developing autism, over sisters whose risk is only about 1 to 2 percent.
Treatment: While there is no cure for Autism, there is therapy and behavior intervention which help specific symptoms and bring about substantial improvement.
Educational/behavioral interventions: Therapists use very structured and intensive training sessions to help children with autism on their social and language skills such as Applied Behavioral Analysis. Many parents and siblings of such children go to family counseling to help cope with the challenges of living with a child with Autism.
Medications: Doctors may prescribe medicine for treatment of autism related symptoms such as anxiety, depression, or OCD (obsessive compulsive disorder) Medication is often prescribed for severe behavior problems, seizures, and hyperactivity.
Incidence: There are about 200K to 3M cases of autism diagnosed per year. Autism is most common in men. The age range for people diagnosed with autism is commonly around 3-60 years old.
ANGELMAN SYNDROME
Angelman syndrome is caused by the loss of function of a gene called UBE3A. Symptoms are delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Also, most children affected with it also have recurrent seizures, scoliosis, and a small head. Usually, development becomes noticeable by the age of 6 to 12 months, and other signs become noticeable by early childhood. Kids with Angelman syndrome tend to act happy and laugh a lot, but have trouble sleeping. But once they get older, they don’t get excited easily, and have an easier time sleeping. This disorder is caused either by when a segment of the maternal chromosome 15 containing this gene is deleted, or less often by a mutation in the maternal copy of the UBE3A gene. Normally, angelman syndrome is not inherited, and there would be no other people in the family with the disorder, but rarely, a genetic change responsible for Angelman syndrome can be inherited. Treatment is antiepileptic drugs for seizures, and physical therapy and speech therapy, and surgical intervention for scoliosis. Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
SUPRAVENTRICULAR TACHYCARDIA
Supraventricular tachycardia (SVT) means that from time to time your heart beats very fast for a reason other than exercise, high fever, or stress. For most people who have SVT, the heart still works normally to pump blood through the body.
Symptoms:
Causes
Most episodes of SVT are caused by faulty electrical connections in the heart. SVT also can be caused by certain medicines. Examples include very high levels of the heart medicine digoxin or the lung medicine theophylline. Some types of SVT may run in families, such as Wolff-Parkinson-White syndrome. Other types of SVT may be caused by certain health problems, medicines, or surgery.
Inheritance
Some types of SVT may run in families, such as Wolff-Parkinson-White syndrome. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typically has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, a person with familial Wolff-Parkinson-White syndrome has inherited the condition from an affected parent.
Treatment
Prescriptions-
Channel blocker: Diltiazem by mouth (Cardizem) or by injection, Verapamil (Calan)
Heart medication: Digoxin by mouth or by injection (Lanoxin), Amiodarone by mouth (Cordarone) or by injection (Nexterone)
Other treatments: Metoprolol by injection or by mouth (Lopressor), Bisoprolol (Zebeta), Adenosine by injection (Adenocard), Atenolol (Tenormin),
Valsalva maneuver, Antiarrhythmic agent, Vagal maneuver
Procedures: Ablation, Cardioversion
Incidence- 200K to 3M US cases per year. Both male and female can get SVT. Most people are born with it.
Symptoms:
- Palpitations
- Lightheadedness
- Dizziness
- Fainting
- Pressure, tightness, pain
- Shortness of breath.
- A pounding pulse.
- Sweating.
- Tightness or fullness in the throat
- Tiredness
Causes
Most episodes of SVT are caused by faulty electrical connections in the heart. SVT also can be caused by certain medicines. Examples include very high levels of the heart medicine digoxin or the lung medicine theophylline. Some types of SVT may run in families, such as Wolff-Parkinson-White syndrome. Other types of SVT may be caused by certain health problems, medicines, or surgery.
Inheritance
Some types of SVT may run in families, such as Wolff-Parkinson-White syndrome. Familial Wolff-Parkinson-White syndrome accounts for only a small percentage of all cases of this condition. The familial form of the disorder typically has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, a person with familial Wolff-Parkinson-White syndrome has inherited the condition from an affected parent.
Treatment
Prescriptions-
Channel blocker: Diltiazem by mouth (Cardizem) or by injection, Verapamil (Calan)
Heart medication: Digoxin by mouth or by injection (Lanoxin), Amiodarone by mouth (Cordarone) or by injection (Nexterone)
Other treatments: Metoprolol by injection or by mouth (Lopressor), Bisoprolol (Zebeta), Adenosine by injection (Adenocard), Atenolol (Tenormin),
Valsalva maneuver, Antiarrhythmic agent, Vagal maneuver
Procedures: Ablation, Cardioversion
Incidence- 200K to 3M US cases per year. Both male and female can get SVT. Most people are born with it.