Is there any other parents in this group that have children with Angelman syndrome??
Angelman syndrome is usually not recognized at birth or in infancy since the developmental problems are nonspecific during this time. Parents may first suspect the diagnosis after reading about AS or meeting a child with the condition. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident. A summary of the developmental and physical findings has been published for the purpose of establishing clinical criteria for the diagnosis and these are listed below. 10 All of the features do not need to be present for the diagnosis to be made and the diagnosis is often first suspected when the typical behaviors are recognized.
Developmental History and Laboratory Findings
Normal prenatal and birth history with normal head circumference; absence of major birth defects
Developmental delay evident by 6 - 12 months of age
Delayed but forward progression of development (no loss of skills)
Normal metabolic, hematologic and chemical laboratory profiles
Structurally normal brain using MRI or CT (may have mild cortical atrophy or dysmyelination)
Clinical Features in Angelman Syndrome
Consistent (100%)
Developmental delay, functionally severe
Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
Frequent (more than 80%)
Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
Seizures, onset usually < 3 years of age
Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
Associated (20 - 80%)
Strabismus
Hypopigmented skin and eyes
Tongue thrusting; suck/swallowing disorders
Hyperactive tendon reflexes
Feeding problems during infancy
Uplifted, flexed arms during walking
Prominent mandible
Increased sensitivity to heat
Wide mouth, wide-spaced teeth
Sleep disturbance
Frequent drooling, protruding tongue
Attraction to/fascination with water
Excessive chewing/mouthing behaviors
Flat back of head
Do you mean my playgroup?
No, none that I know of. I'm afraid I dont know what Angelman syndrome is though, can you inform me?
A.,
How did you find out about your daughter? My daughter is 6 and we are still not sure what she has. Angelman has been mentioned. Does she see a geneticist? Did she have a blood test? What are the most common characteristics?
Good luck with your daughter.
K. M
Hi A.,
No i do not have a child with Angelman syndrome, however i do have a son that is Dyspraxic but i am curious could you tell me what Angelman's syndrome is and what the symptoms are? My intention is not to be rude so if i seem so, then i apologize. I just do not like to be ignorant about anything in this world. THANKS for listening, B.
Hello A.. I am not sure what Angelman syndrome is but I am going to research it on-line. I no longer live in the area but I wondering if you have talked to anyone at Children's Hospital of the Kings Daughters in down town Norfolk. If there are any support groups they would know of them. Also, you may be able to get additional information from some one there at the hospital. I'm not sure which extension or what department you would talk to but maybe you could try the human resources department (I think I remember it being called that), if not, the main information number of the hospital may be able to help you. That is where I went for my daughter when she was growing up and I took many types of parent classes there as well (most all of them are free and so informative on many subjects). Let me know if you find any helpful information out...my email is ____@____.com . I will keep you and your family in my prayers.
L.
I, too, am not sure what this is. Could you type back a quick script to tell us about this please. Good luck and God bless...J.
