Hi Kali,
unfortunately some dr.'s are not very good at following basic procedures, it may be because they have done the test many times before, but didn't bother doing it since it's never shown up. You could probably do it at home, they just look for hyperpigmentation with an ultraviolet light, and it must be done in a very dark room. Now that we've seen it under the lamp, it's actually very obvious to us. There are very large patches on my son's chest, he has 2 marks on his back, as well as some under his arms, and around the top of his thighs.
Basically finding those marks only meant more questions, and many more tests for Zachary, and not many answers. What I have learned is that there are many things neurologists still do not have answers to. My son is one of those that has little oddities when tests come back, but at this time they do not add up to any known disorder.
Landau Kleffner Syndrome (LKS) is a rare childhood epilepsy syndrome. Most of the seizures occurr in sleep, and are sub-clinical (you can't see them, happening). There is a very obvious pattern that shows up when a VEEG is done, although a child can still have LKS, but it does not show up on an EEG.
There's a lot of overlap with autism, but usually a child develops normal language and tends to lose it between 3-7 yrs old. My son also lost fine motor skills, potty skills, receptive and expressive language, behavior gets very difficult. Most kids stuggle to sleep, getting up 2-3 times a night, even when they sleep well they will be tired the next day. My son continues to regress every 6 months, and he's been doing this for 3 years now. We spend 6 months trying to regain skills, only for him to lose everything in a few days.
There are variations of LKS just like autism, my son has it in a more severe form.
My son has a birthmark on his ankle that increases in size as he grows. On his first visit to his dev ped., she asked if he had any birthmarks. She said when there are more than 3 there is a concern, but I don't recall her saying what that concern was. Does anyone know why having several birthmarks might be a concern? Is there a connection with asd?
i dunno, the only concerns I have heard regarding birthmarks are skin problems - contact your ped and find out what she was talking about to calm your concerns.Yes, our pediatric neurologist said the same, only she said if there were six birthmarks on his body, it would be an indication that he had a neurological disorder, a form of autism. My son was born with a birthmark on his arm. At 1.5 yrs this was the only one he had. But in the past year he developed two more much smaller moles in other areas. Now my own question to that neurologist is - are moles that develop after birth counted in this concern?Aiden has 4 birthmarks. A big one on his leg, two on his back, one behind his ear/under his jaw line. All are quite faint, none seem to be growing.Thanks for all the info!
Smith22 - What is Landau Kleffner Disorder and how did you find out your ds had this?
My son is very fair skinned. They didn't do the ultraviolet test on him.
Sleuth- That's an interesting question. My girlfriend has fibromylagia and when it acts up for her, she gets dark patches on her forearms that look like birthmarks. As she feels better,they fade. I think fibromylagia is an autoimune disorder. Just thought I'd mention this.
I called my son's pediatric neurologist over this question. She called me back to say it's NOT a form of autism but of another neurological disorder. AND she said if any moles appear after birth, they are discounted in consideration of this disorder.Holly-2, thanks for the info. My son's birthmark is not raised and is light brown with uneven edges. He also has one on his leg but it's much smaller. I don't know if it was there from birth. Excellent question. I remember Anthony's ped neuropsych asking us about these and she even mentions it in a report to the neurologist that he has "cafe au lait" type birthmarks. I remember wanting to ask her about this but never did. I'd love to hear the answer if anyone knows. BTW, I have a few of them myself.I was asked this too. Ashleigh has a birth mark on her upper arm and it looks like a thumb print. Its light brown and has some small red spots in it. There is also longer hair growing out of it. I showed it to her doctor when he asked but he never said anything. I am curious about this now too. But, I also have one on my back, almost the same size but lighter and I dont think the hair is different.
I wonder if it's autoimmune-related. ...something new to google! I have twoI believe they're looking to rule out neurofibromatosis, as well as some other neurocutaneous disorders. Autistic behaviors are common in children with these disorders, and it's an easy way to look for these conditions.
If your ds is light skinned did he do an exam with a woods lamp? They're looking for patches of hyper or hypopigmented skin that can't always be seen except with a woods lamp (ultra violet) if your skin is very fair. The developmental ped we saw found lots of hyperpigmentation on our ds with this method, in fact it was the first time the doctor had actually found any, and he's been practicing for many years. The marks were found three years ago, and we still don't have all the answers, but we do know his autistic behaviors are caused by Landau Kleffner Syndrome, and a still unknown disorder.
Hope that helps.
Yeah, they're looking for neurofibromatosis almost definitely.smith22 - Thank you for your reply. I'm sorry to hear about your son's intervals of regression. He must be a strong little boy just like his mom. Thanks again for the info. Take care.
i really should check into this-- liam has at least 4 or 5 visible cafe au lait spots. From reading some message boards, it seems that the children have very similar symptoms to him as well in a lot of ways. I'm guessing neurofibromotosis. My ex husband has a form of it and he has cafe lait spots. He gets tumors inside of his body, but is 60 and going strong. Interestingly, I don't know if it's connected or not, but he has classic symptoms of Aspergers. He's so socially clueless that he used to embarass ME and I'm socially clueless too