Intellectual Disabilities (eg. autism, mental retardation)

Q&A about conditions where autism or cognitive impairment is a major characteristic that are influenced in whole or part by genetic factors. Examples include Fragile X syndrome, Rett syndrome, and autism spectrum disorders.

The Centers for Disease Control and Prevention (CDC) defines an intellectual disability as “a significantly below-average score on a test of mental ability or intelligence and by limitations in the ability to function in areas of daily life, such as communication, self-care, and getting along in social situations and school activities. Intellectual disability is sometimes referred to as a cognitive disability or mental retardation.” Intellectual disabilities such as mental retardation and autism may be inherited or caused in whole or part by genetic factors.

Other information about intellectual disabilities:

-The Centers for Disease Control and Prevention (CDC)

http://www.cdc.gov/ncbddd/dd/ddmr.htm

http://www.cdc.gov/ncbddd/autism/index.htm

Subtopics

Asperger Syndrome (6) Attention-deficit hyperactivity disorder (ADHD) (1) Autism Spectrum Disorders (29) Chromosome 2 (1) Developmental delay (1) Fragile X Syndrome (28) KBG Syndrome (1) Mental Retardation (3) Miscellaneous/Unclear Diagnosis (13) Prader-Willi Syndrome (2) Rett Syndrome (5) No Sub-topic (0) Showing 90 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	My autistic 14 year old son with a siezure disorder recently had a blood check and the Dr told us that he has Brachydactyly and we should see a geneticist. Where can I read about Brachydactyly and where can I take him. View Answer		2205-11-08


	My son recently received an educational diagnosis for ASD more specifically Aspergers. I have tried several neurologist in the area but have had a hard time finding one taking on autism patients. One of the neurologist offices referred me to Dr. Edward Lose. This is will me my sons first visit with a Dr. regarding ASD. Am I going in the right direction? I do not want to wait a month on an appointment only to find that I should have started else where. There is very little direction given to us parents on where to go. View Answer		2009-10-06


	My son who will be three in two months has a developmental delay, mainly on his communication, he does not understand language and he has been found to be under the autism spectrum. He also suffers from diarrhea (loose stools) and his skin is very delicate he develops rashes very easily. I just found out that my paternal grand mother and her daughter they both had children with different problems including diarrhea who died when little. I want to know if this could be related and if there is something I can have him tested for. Thank you View Answer		2009-10-04


	Hello, My 6 year old daughter has developmental delay, but none of the neurologists that we have seen have been able to give me any answers on why she is. It is very frustrating for my family and I to not have answers. We previously lived in California, where she had an EEG, an MRI, and blood taken for genetic testing. We were told all of the results were normal. We have also had a micro array test done with still no answers! I saw the show Mystery Diagnosis on t.v. where a little girl had 90% of the same symptoms as my daughter. I also read some of the online material on Argininosuccinic Acidemia, and belive that she could have this disease. Is there any way that a genetic test could have missed this in my daughter? If so could you please tell me what test specifically we could have done to find a diagnosis. Thank you for your time View Answer		2009-09-28


	Hello, I just got re-married and my new husband's 10 year old son has autism. His daughter who is 7 was diagnosed with PDD/NOS. (I think that can be taken away at this point) I think she just has ADD- like my husband. They are not hyper..just have attention issues. Anyway, What are our chances of having a child with autism? We have done genetic tests and nothing came up indicating it was a genetic issue- well, that they could FIND anyway. So, if its not genetic, why did his son GET autism and what are my chances of having a child with autism due to all of this that is going on with his kids. Can his ADD cause these issues, and should be be nervous? His ex-wife, the mother of his kids now, has severe depression, a very weak immune system and her family has a lot of mental issues- and drug issues. I am just hoping that this autism is not on my husbands end of things...can you help me? Thank you so much and I cant wait to hear from you. View Answer		2009-09-03


	My husband and two of our sons have the facies typical of Fragile X, along with many of the other symptoms including intellectual challenges. Is there another genetic condition similar to Fragile X that may be passed along father to son? View Answer		2009-09-03


	My 3 year old son was diagnosed as Autistic when he was 2. Now our 16 month old daughter is showing signs of Autism as well. She failed her MCHAT earlier this month, and has an appointment on the 28th with the specialist. The more I watch her, the more signs I see, so I believe that she is Autistic. My question is, do we have a very high chance of a third child being Autistic? I don't know if I want to risk the chance, but I always dreamed of having a big family. I'm torn on what to do. What are the odds of having 3 children with autism, and what are the odds of having 2 autistic one non? Neither my husbands family nor mine have Autism anywhere. Thanks. View Answer		2009-08-16


	My mom's sister has had 2 sons both with fragile-x syndrome. My grandmother was a carrier of the gene and it got passed down to my aunt who gave birth to her sons both with the condition. My mothers' genetic test came up inconclusive and I do not have the syndrome, however am unsure if I am a carrier. What is the liklihood that my offspring would develop the condition, if both my mom and myself are without the disorder? View Answer		2009-08-10


	I have a 22 year old daughter with Asperger's Syndrome. She recently became engaged to a young man with Soto's Syndrome. I am concerned about the children they may choose to have, and as to what the risks are for them to have children given that they both have a genetic disorder. While I realize it is impossible to be certain as to the actual chances of their having children with a genetic disorder, I was hoping you might be able to advise as to an approximate percentage of chance for them to have a child with a genetic disorder. Thank you in advance for your help. View Answer		2009-07-17


	Can a father carry Fragile x Syndrome and pass it to his daughter as a carrier? If the father is having an incestuous relationship with his daughter and a child (girl) is born of this relationship can that child carry the condition and eventually pass it to only one (a son) of her three children? View Answer		2009-07-12


	Hello. My step son who is 9 has Autism. His younger sister has PDD NOS. His ex wife who he had these two kids with has a family history of all sorts of mental health issues..she has severe depression herself. But family history includes drug use, bipolar, depression. My husbands side does not have any mental health issues they know of. My husband and I would like to have a child together, but are concerned that my husband is the carrier of these Autism disorders. He and his son who is autistic, have an appointment at CHOP to under go some genetic testing to find genetic markers and such. My question is, what will they be looking for? Will they test my husband too? We want to find out if he is the carrier of these things. What should we ask for testing wise?? Fragile X? What else? I mean, we want to find Chromosome mutations and markers...How do they do these tests? Blood test on his son and blood and semen tests on my husband? his son? View Answer		2009-03-11


	My fiance and I do plan on having children. His sister is mental retardation. His mom and dad where normal and supposedly his moms sister is mental retarted as well. What are the chances our child will be mental retarted? View Answer		2009-02-09


	I have a student in Grade I whose mental age is 7 years while his physical age is 12 years. In the future what will be the collaboration between his physical and mental age and how much will his mental age improve? View Answer		2009-01-31


	hi, i am a parent of a two year old child who has been having some speech problems. i took him to a doctor, who told me that he wasn't interacting at the level he should be and is obviosly behind in speeaking and expressing himself. he is a very bright child, has already stared reading simple things like numbers and his name, and knows the letters of the alphabet. he has no motor skill delays, and is very active. he is a little obsessive when it comes to cleanliness and organization. and he is slightly under wieght. it will be 6 to 8 months before he is able to see a speech therapist and about 3 months before he is able to see a neurologist. i just would like to know what might be going on with him, if it is autism, which his doctor says is a possibility, what would be the severity of that. your input would be much apperciated View Answer		2009-01-29


	Hello, My 9 month old daughter has gross motor delays that we first noticed when she was late to hold her head steady due to axial hypotonia. Her head size is in the 5th percentile. She is developing normally otherwise at this point and has had no seizures. Her brain MRI was positive (meaning there were no issues). We had a molecular sequencing report ? MLPA MECP2 with results that were negative for deletion or duplication of MECP2 (Xq28) but positive for abnormality near exon 1 of NTNG1 (1p13.3). The interpretation was that an abnormal result (ratio of 0.6) was observed with probe specific for the NTNG1 gene located in chromosome 1p13.3. The probe targeted the NTNG1 gene region 17 nucleotides downstream from exon 1. Based on the limitations of the test it could not be determined whether this ratio is a result of small-scale deletion, sequencing mutation or polymorphism in this target area. The report further indicates that mutations in the gene have been identified in patients with Atypical Rett syndrome, but does not include any other possible diagnosis. Based on the information I?ve read about Atypical Rett?s, persons with the syndrome present early symptoms that include seizures. Given that our daughter has not had a seizure, as confirmed by the MRI, and remains engaging and alert, would Atypical Rett?s be ruled out? What are other possible diagnosis for this test result? Her Cytogenetics report and molecular microarray report were both interpreted as normal. We have scheduled an appointment with a geneticist but would like to be as informed as possible prior to the meeting. Thank you. View Answer		2009-01-23


	I am the stepmother of an autistic child. His father and I are interested in having more children. I can't seem to find any data/info at all on whether or not there is an increased risk of having an autistic child with a father who already has a child with autism. View Answer		2009-01-08


	I am 31. At about 30, my periods went from extremely regular, to spaced out-3 cycles in 5-6 months. Dr. tested estrogen levels in Jan '08-and put me on progesterone cream. This lasted till September, with some effectiveness, but nothing to write home about. Despite 2 rounds of prometrium, I have gone 3 months without a cycle. Dr. says I am not in POI or POF and neither of my children (14, 9) are retarded, and says I wouldn't be a carrier (even pre-mutation) of Fragile X. My son, has some sensory issues, reading issues (despite having special glasses and not being dyslexic). Since Fragile X can cause anything from learning disabilities to mental retardation, and there is no family history of learning disabilities (or anything else), POI or POF, I was wondering what your take was. Is this something I should investigate without my OBGYN's help? Thanks! View Answer		2008-12-09


	Is ADD heriditary? Son-in-law has this disorder and our daughter has asked his councellor, but did not get a definite answer. Any info would be appreciated. thanks View Answer		2008-12-07


	i recently heard of a genetic condition and i'm interested to know if it's real or not. apparently there's a condition not unlike autism (i think, it may have been down's syndrome, or something else for that matter) that causes the person to have pointy or distorted ears as well as the other mental characteristics. i'm still not sure if it was true or not, so thankyou for any insigt you could give me =) View Answer		2008-11-18


	My boyfriend and I want to marry and have children someday. We both have some illness in our families and we are worried about if/how it might affect our children. His brother has Aspergers syndrome. I have a schizophrenic uncle and great-grandmother. I am 27, and will turn 28 in May. What precautions can we take now? If we wait longer, will it increase the risks? Thank you! View Answer		2008-11-12


	My 21-year-old daughter has recently been diagnosed with Asperger's. She does not have a learning disorder. Her verbal skills are above average, and her math skills are average. She has unusually poor spatial reasoning and a subtle, but impairing lack of social skills. In addition, she is missing the knuckle below the 4th finger on her right hand - this finger is shortened. She is shorter than other members of our family (about 5' 2'') and rather round faced. She is stocky with a tendency to gain weight readily. Her hands, arms and legs are puffy, like an infant's or a toddler's. In other words, she appears to show traits of Albright's Hereditary Osteodystrophy. She does not show any of the hypocalcemia symptoms of hypoparathyroidism. I think she shows characteristics consistent with 2q37 deletion. However, her developmental issues are mild (no mental retardation - only Asperger's). Should we have her tested for 2q37 deletion, or am I jumping to conclusions? View Answer		2008-11-11


	I have a 13 year-old daughter with undiagnosed-etiology MR in the 65+ IQ range. She has many markers of genetic disease: hypotonia, cherry spots & birthmarks, epicanthal folds, coarse features, etc. She has had extensive genetic testing at Children's Hospital of Philadelphia with no significant findings. Is there a place where I can register a sample of her blood where it will undergo repeated analysis as research brings new testing methods? Is there a facility that would appreciate having an unusual blood sample to research? Whatever she has must be extremely rare, so I'm not sure finding 'it' will help us specifically, but I wonder if it could help researchers as they try to find correlations between undiagnosed MR conditions & DNA. Thank you. View Answer		2008-11-05


	I have a 9 year old son who has high functioning autism, tourettes syndrome, ocd and an anxiety disorder. I am concerned because the size of his genitalia dosen't appear to be growing and is actually very small. Is there any one syndrome that could explain this. I am just after some suggestions until we see his paediatrician again to know if there is any connection between it all. He is the correct height and weight for age. thank you View Answer		2008-09-13


	I have an 8-year old son who was first diagnosed with CP, then at age 3, Autism. He has had testing for DeGeorges, Fragile X and Williams Syndrome all testing fine. He recently had a new genetics test - Chromosomal Microarray which came back showing - Interstitial loss of chromosome 2 long arm (2q37.2-q27.3). Is this still related to autism, and are there any other suggestions for treatment? He currently is taking Focalin, Prozac and Chlonadine. None of these medications are really helping. The main problem is behavior and his ADHD. He'll do well on a medication for about a week, then it all seems to fall apart. We are waiting to see a psychiatrist, but not sure when or how long before he can be seen. View Answer		2008-09-04


	I am 20 years old and they have told me after i had a cvs done at 10 weeks that my daughter will have mosaicism Fragile X and she had 3 gene counts i was wondering if she will have problems when she is born or if she will be completely normal? I really don't understand this mosaicism that much View Answer		2008-09-02


	can you tell by the blood test how your child is with the symptons of retts. would it show mild form or classic form of retts. View Answer		2008-08-25


	I am currently researching Fragile x syndrome. I have a boy wha has been diagnosed fragile x and his sister who has no symptoms but ia a carrier. Can you please explain what the corelation is for the disease to be pased down. Am I right in saying that. From the boy he can only pass it on to his daughters? Is this correct. His sister will pass it on to her daughters but only has a 25% (1 in 4) of passing it onto a son. Is this correct. Thank you. View Answer		2008-08-20


	Hi My son was diagonosed with Hypotonia & Hyper flexable joints at 12months old, after not reaching development milestones. Now at 3 yrs 6 months he has been diagonosed with Autism after a long struggle with development delays! Myself & My husband would like to have more children but are concerned that our son's condition's are related to a genetic condition. Given what i have told you, do you think there could be a genetic problem? Thankyou in advance View Answer		2008-08-11


	Good aternoon My son and his soon to be wife have just found out that they are expecting a baby (8 weeks). His girlfriends sister has got autism, what are the chances that their baby also has got authism? Thank you View Answer		2008-07-21


	I have never been tested but I know that my father is a carrier of Fragile X. My sister was tested by Emory University about 15 years ago and she was found to be a Fragile X Carrier also. I was never tested, but the way I understand it - I am automatically a carrier since my dad is a carrier. Am I correct? I have a 4 year old daughter that seems to be perfectly normal. I still worry though that she also could be affected by the Fragile X gene, which could definately affect her future. What would you suggest that I do? I do not want to put her through any blood test at her age. Thank you for your time!!! View Answer		2008-07-10


	I have a 3 year old son with Autisum Spectrum Disorder. We had suspected something was wrong since he was 19 months old and got a diagnosis when he was 2. He is very high functioning and is very hyperactive at times. I am 39 and my husband is 37. We have no other people in our family with Autisum . I was told that i was hyperactive and had a learning disibility and my 67 year old father has tourettes syndrom. My husband and i are trying to decide if we should have another child. We were told by a neurologist that our next child would have a 20% chance of having Autisum but if we had a girl the chances of her having Autisum would be slim since this is a disorder that is found mainly in boys. I have also seen strong evidence that says Autisum is not a genetic disorder or inheritedand there are lots of outside factors. With our son i recieved genetic testing and conculing and Autisum was no really focused on. what are your thoughts on our second child? View Answer		2008-07-07


	Hello, I am 11 weeks pregnant and have just found out that on my husband's side fragile x is present. His mother is a carrier, his sister has it. My husband was tested when he was a lot younger (now 29 years old) and was found to be a non-carrier. I wonder what are the chances that our baby will be affected? Please advise. View Answer		2008-05-26


	my 3 1/2 year old son is on his way to severe autisum,can he also have the fragile x syndrome? i have 2 other children a 2 year olod girl and a 3 month old girl whats there chances of having autisum of fragile x? he bangs his head and gets nose bleeds how can i correct that? View Answer		2008-05-22


	My 5 year old son has epilepsy along with autisum,plus an extencive heath history. His folic acid reference # is 32 with #40 being the low minimum as found during a lumbar puncture.Q,other then suplementing folics what else should I look into, and how soon should i have his folic tested View Answer		2008-04-28


	My niece was diagnosed as a carrier of Fragile X, and her daughter is affected. I tested negative. My sister has not been tested, but we feel strongly that this came from my mother. My other niece has not been tested and has a four year old son who has the physical charactistics ( long face, protruding ears ). His speech is halting and like that of a two year old. This child, however, can recognize the alphabet and knows the sounds each letter makes. Is it still possible that he could be affected? View Answer		2008-04-22


	My husband and I are starting a cycle of IVF in the near future. We are aware that two of his first cousins have each had 2 children with autism and learning disabilities. (Relation: the cousins are the son and daughter of my husband's uncle. The uncle is my husband's father's brother. The uncle had 6 children in all. One daughter had two sons, both autistic and one son had two sons, also both learning disabled. One other son had two normal daughters.)Is there any genetic testing we should be considering to see whether my husband is at increased risk of passing on a genetic abnormality that could lead to autism? Testing for 22Q has been mentioned to us. Thanks for your help, View Answer		2008-04-16


	I have seen a few articles now that describe a possible link between the pten gene mutation and autistic individuals with macrocephaly. These articles recommend that children with autism and macrocehpaly get screened for the pten mutation. (Schafer and Mendelsohn 2008) When I look for how many of these kids they have actually identified with the pten mutation and autism, however, the number is very low. It seems like it is a very new finding. I'm not sure if they are talking about a future area for research or if they think that it is worthwhile for kids with autism and macrocephaly to be screened right now. I have two kids with autism and macrocephaly and I am afraid of a scenario where I pursue the genetic screening and get a blank look from a genetic counselor. View Answer		2008-03-27


	my son has developmental delay, severe phonological disorder, fine and gross motor issues. i have had some genetic testing done he does NOT have fragile x, fish analysis was normal. should i continue with testing will it matter to narrow it down? View Answer		2008-03-09


	I am a mother of an autistic child, he is now 8yrs old. and now i have another child he will turn 2 next month. i had him evaluated at 16 months, he has some speech delay according to the evaluation he does not present any characteristic of an autistic child at that time. i've been observing him and he is kind of following my first son steps but i'm not sure yet. would it be that my husband and my DNA donot match? View Answer		2008-02-27


	My husband is in his 50's. We are planning on hopefully conceiving later this year. Is it true that the older the father is, the greater the risk for an autistic child? View Answer		2008-02-21


	I was 27 years old when I was diagnosed with premature ovarian failure. There is no family history for ovarian failure. My question is two-fold. Is it possible that I carry the fragile x despite the fact that there is no family history of any fragile x problems and the fact that my oldest daughter was diagnosed with Primary Pulmonary Hypertension @ 5 months, now 16 (doing very well) have any link to Fragile x? Thank you. View Answer		2008-02-19


	my cousin has a grandchild with fragile x. it was passed from our grandmothher to my uncle to my female cousin to her daughter to the male grandchild wo has it quite bad. My uncle was my fathers brother. could that gene have been passed to me? i have had 2 normal male children and now have a male and female grandchild. what are the possibilities for my female grandchild? View Answer		2008-02-16


	If a male is diagnosed with Fragile X, is one of the symtoms hypersexuality when one becomes an adolescent? View Answer		2008-01-28


	Is this condition one that is detected with an amniocentesis test? Meaning, if the amnio we had done on our child was clear, then this would not be an issue to consider with a child subsequently diagnosed with autism? View Answer		2008-01-28


	my son shows signs of fragile x syndrome and we just recently tested him for it and have not recieved the results back as of yet. Everything I have read is saying that it has to come from the mothers(myself) side. Although looking at pictures I see "spit images" of his dad with the physical looks and some of the traits mentally. Is there ANY way possible that the father can pass this trait onto the son's? I have read that they can pass it onto the daughter but not the son. The other pictures of the kids look just like kids on the website and his other son and daughter (not related to me) have physical traits and some mental ones that are exactly like my son. My family has no known disabilities anywhere. View Answer		2008-01-09


	My father's brother's daughter (my cousin) has Rett Syndrome. I do not understand genetics enough to decipher if I am at risk for being a carrier of RS. I understand that it is thought to be a random mutation, but am concerned with what seems to be a small possibility of inheritance. Is it genetically possible for me to be a carrier? An answer would be greatly appreciated. Thank you! View Answer		2008-01-08


	I have a son and daughter that have a full mutation for FragileX. My son also has Klinesfelter Syndrome. We have talked to a Genitic Counsler but I am still confused on how this will affect my son. He gets OT, PT, and Speech everyweek and takes medicine to control his hyperactivity. He is five years of age. I have heard not many people have both and I have read what each can cause which seem to be almost the opposite of each other on Height and testicle size. Any insite would be great. View Answer		2007-12-19


	My son is 21 and has a diagnosis of PDD NOS. He has many of the cHaracteristics of Fragile X. I know diagnosis can be made with a blood test, but am wondering if there are any other characteristics like skin moles or birthmarks associated with Fragile X or other genetic disorder. This may sound silly but my son has identical small brown birthmarks that look a little like moles located in exactly the same place above each nipple. I have always wondered if this was of any significance. Since my son is adopted, I have no good information about his birth family. Thank you. View Answer		2007-12-19


	My husband and I just recently found out we were pregnant. His sister has Retts Syndrome and she has a son who also has Retts Syndrome. His mom was tested and she does NOT have Retts Syndrome. What are the chances that my husband could carry the Retts gene? What are the chances that our baby could be affected? Thank you! View Answer		2007-12-07


	My daughter in law is currently having genetic testing for fragile x syndrome. Her maternal grandfather is a carrier and he has 2 children, a son, and my daughter in laws mother. Her mother was never tested, but has 2 children of her own none of which seem to be affected. My daughter in law is now pregnant with her first child. Can you tell me what are her chances of being a carrier or having a child that is affected by fragile x? She is currently 14 weeks pregnant. View Answer		2007-11-05


	I am a 33-year-old woman and my brother, age 31, was diagnosed many years ago with Pervasive Development Disorder. The last time he underwent any sort of genetic testing was about 25 years ago, when he was tested for Fragile X and determined to be negative for it. Nobody has ever determined the cause of his symptoms. My first cousin (my mother's sister's son) has a two-year-old son who has just been diagnosed with PDD. My mother is convinced that my cousin's child has exactly the same disorder that my brother has. I would like to obtain as much information as I possibly can before deciding whether to have children. My mother mentioned that my brother might be tested for Fragile X again. Has the testing changed at all in the last 25 years? Are there other genetic disorders with similar symptoms that can be conclusively tested for? I know that if it's Fragile X, my male cousin could not have passed it on to his male child. Any suggestion you have would be appreciated. View Answer		2007-10-29


	My child is diagnosed as PDD-NOS. He was recently tested for Fragile X because most of the traits he has are of that, however the test was negative (I don't know which of the 2 were done). Are there other genetic disorders that include these traits that he could be tested for? After the Fragile X test came back as negative, his pediatrician was at a loss--we were all shocked it was negative. Thank you! View Answer		2007-10-24


	Why can a pre mutation allele for fragile X become a mutated allele in females but not in males? View Answer		2007-10-18


	Today I received confirmation from my genetic counselor that I am a carrier for Fragile X. My CGG repeat # was between 80-90. I have three daughters aged 5,3,and 6 weeks old. Should I have the tested? and what would the testing either way tell me? View Answer		2007-09-21


	My son just turned 3 and he has 'Isovaleric Aciduria'. This was picked up in the first week of Birth through newborn screening test. My question invoves my 5 year old son who has just been diognosed with Broad Spectrum Austism. He has been tested for 'I.A' and he is clear. I wonder if it is possible that although not having this same genetic problem as my first son can he have another type of Protein processing problem that can cause Autism symptoms? View Answer		2007-09-16


	Hello. I am a single mum with ADHD diagnosed. I have 5 children also ALL diagnosed.Interestingly a Consultant Neurologist in London tested my 2 youngest children for plasma amino acid levels. We were staggered when the youngest (diagnosed DAMP/TLE) came back SERINE deficient. We have been administering 1500mg Phosphatidyl Serine daily with astounding results. My other son diagnosed Aspergers Syndrome is showing Hyperprolinemia, level was 574 and he also showed 405 Glycine and only 20 Glutamic Acid. I am aware that these results are very relevant but am usure of what action to take especially in rebalancing the proline? View Answer		2007-09-13


	My son has autism and he has 2 cousins and 1 uncle with autism. 2 of the other 3 are nonverbal and 1 is verbal. He has received the basic autism panel (ordered by his Marcus Institute dev. phsychologist)genetic test (for fragile x, 15 and 22q problems). I would like to have him tested for other autism suspect genes, particularly foxp2. Is there a study that might sponsor this? View Answer		2007-08-30


	I just learned my cousin's son has Fragile X and she was the carrier, she indicated I may well be a carrier, as may be my sister and brother. Her father and my mother are siblings, her father has tested positive as a carrier. I am done reproducing, but am concerned for my brother, as he and his wife are trying to have children. Should he get tested? View Answer		2007-07-20


	I am a 26 yo sister of a 28yo male with Prader Willi Syndrome. I have another brother (normal) without any genetic abnormalities. My question: Is there any chance that my children could be born with this syndrome? View Answer		2007-06-29


	Is it true there is a 6 times greater chance to have a child with Autism if the dad is over 45? View Answer		2007-06-29


	My husband and I are planning on trying for our first child in the near future. We are both healthy adults in our early twenties. I have a brother who has (very severe) Autism. However, there is no history of Autism on my husband's side of the family. I realize that Autism is highly unexplored, and there are probably many genes involved, but we were wondering if there is any way to ballpark the chances of our child having Autism. Have there been any significant studies documenting this? Any feedback would be much appreciated! Thank you. View Answer		2007-06-10


	My husband and I are planning on conceiving. In HIS family, his 2 first cousins are severely mentally retarded, in a home being cared for. Cousins by: sons of his mother's brother (uncle). I don't know the name of their retardation but could describe it: 1st son (age 32) could communicate with sound somewhat, could be aggressive and has slight facial deformities. Recognizes familiar people, smiles but could be aggressive. 2nd younger brother (age 21) stems, could have autism. Harms himself by punching his head, hands tied when sleeping, wears diaper, is spoon fed. Gentle, facial deformities, extremely thin, very long limbs. Please advise on the possible name or condition + chances of conceiving healthy child View Answer		2007-05-16


	I have a 4yr old son that has PDD. Should he be tested for "BH4" deficiency before being put on the supplement? View Answer		2007-04-15


	I have 14 yr & 7 yr old boys, 14 year old has a diagnosis of Dyspraxia & 7 year old is starting to show signs of learning difficulty and scores high for ADHD at school. My dad had learning difficulties at school, so did my brother and my sister (who also has a diagnosis of PKU). I have read a lot on Fragile X & both my boys have many of the symptoms; learning difficulties, hypotonia, double jointed fingers (especially thumbs and little fingers), flat feet, long faces, large ears. I myself also have some of these. They both regularly see a Paediatrician but have never had any blood tests done, should I be asking for chromosome analysis on my children and if so are there any other tests I should be asking for other than Fragile X. Thankyou. View Answer		2007-04-01


	I am doing a school project in science and I was wondering if you could totally spill out what Fragile X syndrome? i have alot of info already but this would really help beacuse you are a pro. View Answer		2007-03-23


	Hi, I am a special educator teaching children with autism. I have a student in my class who is 8 years old, diagnosed with autism, with some characteristic facial features like elongated face, large ears, slightly slanting eyes. He is non-verbal and to me appears to be having severe retardation rather than autistic. I recently found out through his caretaker that he has genitalia of an adult, i.e. with hair growth. He otherwise appears like any other 8 year old, but is slightly overweight. Could he be having some syndrome? View Answer		2007-03-21


	My son was recently diagnosed with PDD-NOS. We had genetic testing done that indicated that he had extra material on his chromsome 22 and this was inherited chromsome information. Can you tell me what this might mean? How does extra info on this chromsome related to his Autism Spectrum diagnosis? View Answer		2007-01-25


	Hi,My first child is an autistic.I and my husband planning to have a second baby.What are my chances to get a healthy baby with donor insemination. I will be very thank ful to your reply. View Answer		2006-11-06


	I carry the Fragile X gene and have one son who is disabled. I also have two other sons and one daughter that show know signs of disability at all. It was my understanding that if I passed the Fragile X gene to my sons, they would always have some sort of disability. However, I just met a teacher of my son's and he apparently is a carrier but has no disabilities. Can my other two sons be carriers as well and not have any disabilities? I know my daughter could be a carrier and not show any signs. I'm confused now on who and when mutuations occur, especially regarding males. View Answer		2006-10-30


	I have a 5 yr. old son who is XYY. I have had him formally tested (at the age of 3) Texas Children's Autistic Spectrum Clinic...the results were PDD-NOS, XYY Syndrome, severe speech Apraxia, and his numbers fell short of being autistic. he has been in school (PPCD) having private speech therapy. I have taken him to a private behavior therapist but the service provided was a very long drive and the therapist stated that he was not demonstrating any behavior's at that time (3 yr.). My problem now is he is a full day student half PPCD half Kindergarten. His behavior is completely out-of-control. The school has provided him w/a behavior therapist but the faculty is not properly informed of XYY. I have tried my best but little has been resolved. I am at wits end and need help finding someone or a place that will be beneficial to what he has. I need help informing my school and the district about him. His aggression and frustration has increased severly over the years, I believe the frustrations comes from delayed speech (I have taught him sign language-the teachers do not know sign language and have not motivated themselves to learn sign language, I have offered my assistance but still nothing), so he gets very angry and acts out by destroying anything in site, hurting children, and hurting himself. I have logs of his behavior and if this will help you understand my needs and the needs of him. Any information you have will be greatly appreciated. He is a second child in our home. He has an older brother who is a normal 8 yr. old and is very patient w/his younger brother. View Answer		2006-10-09


	I was diagnosed with Fragile X when I was 21. I wasn't diagnosed with autism until I was 19. I'm pretty sure I had it my entire life becuase i was born with failure to strive. A lot more symptoms are showing up lately now then they were when i was younger. Does this mean the problems were worsen or is it just noticeable now that I'm an adult. View Answer		2006-09-08


	My family is interested in adopting a child from Korea who has a family history of what the Koreans call "2nd grade retardation". Please read the following (referring to birth mom): "Her father turned out the 2nd grade of mental retardation and worked in the construction. Her eldest brother turned out the 2nd grade of mental retardation, and her 2nd elder brother turned out the 3rd grade of mental retardation and works as an employee." The birth mom graduated high school. We want to bring this guy home to a loving family, but would like to know the liklihood of his acquiring mental handicaps. Please help us to understand this somewhat cryptic description so that we can bring "our" boy home. Thank you so much!!!!! View Answer		2006-08-15


	My Fathers Sister has a son with Fragile x and a daughter who is slightly affected. What implications are there for myself and future children. Thankyou. View Answer		2006-06-22


	Just looking for some help. I have two children (4 and 6) both with the diagnosis of autism. My 4 year old girl is under evaluation for an unknown metabolic condition...so far no one is able to figure it out...she was 11 mos old when she started throwing up, had enlarged liver and was sent home with a tube feeding for 4months and then started to drink formula. she has been on a formula only diet since...with multiple hospitalizations for vomiting and dehydration. she has a low carnitine level and is taking carnitor. her formula is nutramigen infant formula...any help would be appreciated!! View Answer		2006-05-27


	I understand that most of the time, there is no known cause of autism cases, even if they are appearing in families. Given this, where are the most current data showing risks of recurrence in families with one, two, or more children with autism of unknown origin? View Answer		2006-05-10


	Hello, I am currently 7 weeks pregnant with my first child, I am slightly worried, that my older brother has what we think to be asperger syndrome, although he is nearly 30 my family and I are now getting it investigated to help in the future, my mother and father have no reason to believe that anyone in their family was affected by this, so what are my chances of my unborn child being affected? Thanks View Answer		2006-05-06


	My son has Fragile x Symdrome and I was tested to see If I am a carrier and the test came back that I was and I was planning to have more children in the future ,or do you think I should reconsider? View Answer		2006-04-15


	I was told my 6 yr old daughter with autism may have metabolic disorder after being hospitalized for metabolic acidosis for 3rd time. Pending appointment with geneticist. Any suggestions of possible conditions assoc. with autism? View Answer		2006-03-07


	I have a few questions. I just found out I am a carrier for the premutation for Fragile X Syndrome. My husband has not been tested yet. 1) Is there an earlier test other than an Amnio that can detect the mutation? 2) What are the chances of having a child with Fragile X syndrome when I am a carrier for the premutation? thank you View Answer		2006-02-20


	Are there any chromosomes that have been identified as a cause for Aspergers Syndrome and is there any knowledge of other disorders associated with the same gene? View Answer		2005-09-14


	Are there any current pharmaceutical trials for children with Prader Willi syndrome (PWS)? Are there specialists on the eastcoast who are familiar with PWS? View Answer		2005-09-14


	For many years now, my family has suffered with retardation problems. In a family of 5 children, 3 are retarded, 1 suffers from bi-polar problems and then there is me. After the marriage of one of my retarded siblings and the subsequent birth of his 2 children, genetic testing was done on my mother and 2 of my siblings and a genetic deformity was found that was associated with height and mental capabilities. After a recent batch of testings, another genetic deformity has been noted in my brother's family (wife and 2 children) that my mother refers to as KGB or KBG. Is there some place that I can look these deformities up on the internet? I am concerned that the deformity may be dormant in my children or grandchildren but my surface in later generations. View Answer		2005-09-14


	I have a 4 year old son who was diagnosed as being on the Autistic Spectrum 6 months ago. I have Rheumatoid Arthritis and am Albino. As I understand it there is evidence that Autism may have strong genetic links. I would like to know if 1 Would the problem be on the mother's genes or the father's genes or do both parents have to have a mutation? View Answer		2005-09-14


	I have a patient with Rett syndrome. The parents want to know the risk in future pregnancies. View Answer		2005-09-14


	I have a question about the transmission of Fragile X syndrome. My wife was found to be a carrier, with 80 repeats. There is no family history (she has two sisters, her mother's brother has two sons and a daughter, and her father's brother has two daughters, and our son is not affected.)Our geneticist estimates a 30-40% chance of a son having a full mutation. He does not think that there is a likelihood of an expansion to full mutation in a daughter. I have not read anywhere of different rates of expansion to boys and girls. Do you agree with him? Just a side question. My wifes' father has red/green color blindness, which I believe is not related to Fragile X?Assuming she got the F-X gene from her mother, which the geneticist thinks is more likely, does this mean that our sons would either have the Fragile X gene or be red/green color blind? View Answer		2005-09-14


	Is there any link between albinism and autism? View Answer		2005-09-14


	My brother was diganosed with Fragile X syndrome and died of the disorder at age 23. How common is this genetic disorder and what type of disadvantages do I have, being female, to having a child of my own with Fragile X syndrome? View Answer		2005-09-14


	My fiance has a high functioning autistic brother. Will this reality increase the chances that we will have an autistic child? View Answer		2005-09-14


	My son has autism. I have 0- blood and received the Rhogam injection twice while pregnant. I'm wondering if a higher percentage of O- blood type mothers have a child/children with autism than other blood types. I also have polycystic ovaries and a family history of diabetes and heart disease. View Answer		2005-09-14


	Recently my wife and I were told our 3 year old daughter has Asperger's Syndrome, and also our 18 month old son has high characteristics of also being autistic. I have been told I have Adult Asperger's. My question is with all this history, what are the chances if we have a third child, that child will have Autism as well? View Answer		2005-09-14

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