Today I consulted on a 4-year-old boy who presented for evaluation of developmental delay. As I tried to explain to the worried parents that their son had developmental delay due to a static encephalopathy, it dawned on me how hard it was for the parents to follow me. So here in this post I thought I would discuss the differences between developmental delay versus developmental regression. I shall also give an overview of the various causes of developmental delay and regression and how to go about investigating these children.
So lets keep this simple. What do we mean when we say developmental delay. Simple it means that the child is delayed in his or her developmental milestones. As we all know children acquire motor and language skills as they grow. These set of skills appear more or less at fixed times. For example a baby can sit by the age of about 8 months. Other motor developmental milestones include the age where the baby starts to support his head, crawl, roll over, stand, stand up without support, walk and so on. Pediatricians check for these milestones when you take the baby in for well baby visits. Similarly there are language milestones like when the child starts to speak ma ma da da etc and when the child is able to form short sentences.
So it follows that developmental delay can be of a few types. A child may just have delay in the motor milestones, in others the motor milestones may have appeared at the right time but there is delay in language and other cognitive milestones. In still other there is delay in both motor and language skills (we refer to this as global devlopmental delay).
So what is developmental regression? Developmental regression is said to occur when a child who has been normal in his developmental and has met all the milestones starts to regress and starts losing the acquired milestones. Such a child may stop talking or stop walking and so forth.
As you can imagine the causes for developmental delay and those for developmental regression vary. Another couple of terms need clarification. We neurologists love to use terms called static encephalopathy and progressive encephalopathy in relation to developmental delay.
Static encephalopathy what does this mean? Let me explain with the aid of an example. Suppose you have a child who suffered some brain insult at or near the time of birth. Lets say he had hypoxia (lack of oxygen) to the brain. This child shall have developmental delayed but this shall remain static. The child is not going to progressively go downhill, infact as he ages if good intervention is carried out, it is more than likely that he would start to catch up wih his peers. He may never become completely ” normal” but he is not going to go downhill. His brain took a hit but now is trying to get back.
Progressive encephalopathy: let us assume another child. As compared to the first child, this child has a progressive neurological or systemic condition. Let us for example say he has a metabolic disease which leads to progressive brain damage. This child is going to go downhill as he ages. The brain is going to go “more bad” as time goes by.
Now that we have done with the medical jargon, let us try to make sense of some of the causes of developmental delay and developmental regression. There can be numerous causes of delay. The baby may have suffered some brain damage at or near the time of birth (during the antenatal period when the brain is developing or near the time of birth). Examples include conditions as diverse as mother abusing alcohol during the antenatal period (fetal alcohol syndrome), drugs used during the antenatal period may also harm the developing fetal brain. Hypoxia (lack of oxygen to the brain) is one of the common causes of cerebral palsy which presents as a static encephalopathy and developmental delay. This hypoxia may result from a difficult child birth or complications during labor and delivery. Inborn errors of metabolism, certain genetic disorders constitute other causes of developmental delay. Unrecognized seizures can also cause delay in development. Absence seizures is one such cause.
Developmental regression too has numerous causes.
How does one work up such children? The work up starts with a detailed history and physical examination. Your doctor shall go in depth into the birth history to find any cause. Family history is taken, where any drugs used during pregnancy? Then the child is examined to document is he delayed just in motor skills or is there global delay. After that the work becomes more complicated. Blood work to rule out inborn errors of metabolism, genetic and karotype testing, MRI scans of the brain and EEG may be ordered to zoom in to the diagnosis.
If the final cause is static encephalopathy, then there is nothing”active” to treat. What happened has happened. Now we need to concentrate on early intervention services to bring the child up to par. Physical therapy, language therapy, special education is what we need to stress on.
If the final cause is a progressive encephalopathy then of course depending upon the cause we need to treat. Is the cause treatable?
My advise to parents dealing with this difficult situation: find a good doctor, a pediatrician or pediatric neurologist who can help in getting to the bottom. Do not get disheartened, there are many interventions out there for your loved one. Seek treatment early rather than late as you want to halt a progressive encephalopathy early before too much irreversible brain damage occurs.
Nitin Sethi, MD
Braindisease's Weblog 
Thank you for your explantion.
I have adopted my grandson who was born four wks premature and lungs were not fully developed. He was sent home on oxygen therapy for 6 months.
Now at 22 months he is delayed with his gross motor skills, speech etc.
This has helped me understand more and try to move forward with early intervention.
It will be a long road and every piece of info will help.
Thank you doctor for the explanation. I have a premature baby his age is 9.5 months and the corrected age is 8 months. he is diagnosed with global development delay. He smiles, he cried immediately after birth, he listens to sound and to the direction, he quietens when creating sound, he is making eye contact, but he is not reaching for object and rolling over. We have done the following test, that his vision is good, tandem mass spectrometry has no issues, his MRI came like “carpous callosum is mildly hypo plastic” other than that no abnormalities. Currently providing physio neuro developmental therapy. Kindly provide your advise on what to follow and guide me. Thank You for your service and time. How to contact you, I’m located in Bangalore, India.
Hello,
I have some questions and Concerns about my 20 month old daughter that has developmental delays, that I believe are global developmental delays. Her speech, motor skills and fine motor skills are only developed to a 9-12 month old. We are currently going through our University Hospital and Early Intervention. We’ve had many test done, and a Couple MRIs and CT scans. The CT Scans have all came back normal. But last year her pitutary gland was lit up, and just recently she was diagnosed with a mild case of Hemifacial Microstomia. I did not drink or do any drugs or take medications that i was not supposed to take. I did however lose 50 pounds, and I didn’t take the prenatle vitamins like I was supposed too. We have been to a geneticist and her test came back normal. I’m not sure though what kind of test they did on her. She also has poor muscle tone, and abnormal toenails, and her middle toes (on both sides) are curled. My question, Is there a syndrom or disorder that could cause a global developmental delay that is connected with my daughters case? Thank you for taking time out and reading this letter, it is greatly appricated.
Hi,
My son is 14 months old, he was born 5 weeks premature and he had to remain 13 days in NICU as he had trouble breathing. he had to be under oxygen dome for 3 days and 10 more days were needed to make sure he could eat and grow without hospital help.
he has the gross-motor skills of 7 or 8 month old.
he had MRI of head, that did not show anything wrong.
he has reflux and trouble eating. he does not tolerate swallowing thin liquids.
he has stiff legs, he cannot stretching them straight anf he won’t bear weight on the legs.
he had a complete evaluation of his GI system ,but it showed a normal-healthy GI.
I am extremely concerned about his developmental delay.
recently we had genetic tests and echo-cardiogram done, still waiting for the results.
I had gestational diabetes during pregnancy and managed it with diet.
I also had excessive fluid while pregnant.
Dear Priya,
thank you for writing in. From what you tell me, it seems your son has developmental delay mainly involving motor skills though it may be too early to comment on cognitive skills. The fact that his muscle tone is increased in both the lower limbs (you said his legs are stiff) further raise the suspicion for a static encephalopathy. The MRI scan at times is not revealing. I would advise you to get your son’s doctor to refer him to a pediatric neurologist. He shall be the best person to guide the work-up further. Early intervention with respect to physical therapy and other cognitive therapy, at times is very rewarding.
Personal Regards,
Nitin Sethi, MD
I am the grandfather and babysitter of a two (2) year old female, who has epilepsy. She has had seizures since she was six weeks old. As of this moment they are not controlled. The drugs utilized so far are: ACTH, Topamax , pyridoxine, Zonegran, keppra, trileptal, Nuerontin, and rufinamide As of now she is taking pyrioxine, zonegran, nuerotin and rufinimide and this regimen has not worked. In May of 2008 Haley was admitted to Boston Children’s Hospital Epilepsy Unit for a five (5) day stay for diagnostic workup, which included 24-7 Video EEG, MRI, and full metabolic and genetic workups. There was no conclusive finding of cause; nor was there offered a clear course of treatment In December of 2008 Haley was admitted again to Boston Children’s Hospital Epilepsy Unit for a five (4) day stay for a Phase I Presurgical Evaluation, which included Video_EEG; PET; Interictal SPECT, Ictal SPECT and testing for Rett’s syndrome. She was found not to be a candidate for surgery at this time, due to a lack of clear focality of her seizures. Haley’s neurologist He has communicated his disagreement with Boston’s findings to us and Haley’s pediatrician and they agreed to solicit another opinion. Haley’s developmental delay was moderate when tested a year ago, but as you know it becomes progressive. Her neurologist does not believe there is comorbidity and if the seizures can be controlled she will move on with her development. All of her therapists (PT, OT, Speech and Educational) concur that her significant motor delay is impeding her development. Over the past years there are time I see both delay and regression. By that I mean there are weeks when I see her take two steps forward only to have a series of seizures drag her 3 steps back.
Dear Ed,
thank you for writing in. It seems from what you tell me that your granddaughter has medically refractory epilepsy (meaning that she has seizures which are not controlled by multiple anti-seizure medications). In children like these, the first thing which is done is to try and determine what is causing their refractory seizures. Multiple tests are carried out to rule out or rule in metabolic and genetic diseases (as was done in your granddaughter’s case). If inspite of this work-up no cause can be determined then our best option left is to try and control the seizures. You are right that ongoing seizure activity does hamper motor and cognitive development and infact the child may start regressing (losing motor skills and not gaining new skills like walking, running, talking etc). If the seizures are refractory to anti-seizure medications then surgical options are explored. That said and done, not all children make good surgical candidates. When a video-EEG study is done, there are found to have multi-focal epilepsy (meaning there are multiple foci (areas) in the brain from which the seizures are seen to originate). As you can imagine epilepsy surgery in such a child shall not have a good outcome, even if you take out one focus, the others shall keep firing and the seizures shall not stop. And you cannot take out all the foci.
So in her case, our options are limited. You should keep following with her doctors in Boston. Neurostimulation devices like vagus nerve stimulator and other options such as ketogenic diet may be explored, though we have limited data on their efficacy in small children. Continue with physical therapy and cognitive therapy as early intervention improves outcome.
Personal Regards,
Nitin Sethi, MD
Hi, my name is Emma and I have a beautiful little boy Oliver. He is 4 years old. He has global development delay, hypotonia and epilepsy. He was meeting his milestones but very late. He was developing at about a quarter of the normal develop rate. At 3 yrs he began taking independent steps & clapping. Then just at his 4 birthday he was admitted into hospital with loss of movement in his right side and increased seizures. 100+ a day. He has now loss the skills if clapping, independent walking & co ordination.
Please help
A very concerned mummy from Manchester, England
Thank you E
Dear Dr. Sethi,
I have a four year old son, who had a normal development until he reached 2 yrs. He achieved all milestones at the appropriate age. However when he turned two he lost some of his ablities: language, attention span, imaginative play, etc. There was no apparent cause for this regression (i.e no injure, abuse, etc.) Can you expain in more detailed these type of developmental regressions: why they ocurr, what is the prognosis, would he continue to lost more abilities in the future?
Many thanks,
Dear Laureana,
thank you for writing in. Developmental regression can have many causes some are benign and not progressive and others may be due to a progressive neurodegenerative condition. The prognosis of such a child depends upon the underlying etiology for the developmental regression. If it is indeed due to a progressive neurodegenerative condition, then of course the prognosis is poor while if it is on account of a metabolic condition which was detected in time and treated, the child may regain his milestones.
You can email me at neurologistnyc@yahoo.com. I shall give you my office number and shall be happy to talk to you in person about your son.
Personal Regards,
Nitin Sethi, MD
Hi Doctor Sethi
I cam across your forum while searching for the answer for my question.
I have a 5yrs old son who has Gross, Fine motor as well as Speech delay.
Till the age of 1 year he was fine he achieved all his milestone on time. But when it was time for independent walking he just didn’t walk.He started walking at the age of 22 months.Still he is way behind then his peers.
I really need your help.If possible please contact me ASAP
Regards
Dear Jyoti,
thank you for writing in. I sent you an email advising how you can get in touch with me. Your son shall warrant a thorough neurological work-up. Why is he having developmental regression (was born normal and then starts regressing in motor and language milestones). Some of the metabolic disorders if caught and treated in time are reversible, hence my advise would be to consult a pediatrician. He/ she may further refer you to a pediatric neurologist.
Personal Regards,
Nitin Sethi, MD
Thank you for such a good article on developmental delay vs. developmental regression.
As an optometrist who specializes in developmental vision, I would like to see you add Vision Therapy to your list of recommended therapies for early intervention.
Vision is the body’s dominant sense. Vision is not just the ability to see 20/20. It is also the ability of each eye to shift focus efficiently, for the two eyes to work together, and for the eyes to track targets quickly and accurately. Additional skills in the area of vision include visual processing and functioning visual field size.
If the visual system is not working efficiently, it will impact a person’s performance as well as the outcomes of other attempted therapies.
I hope this information is helpful to you, and eventually to many of your patients.
Dr. Sharon Snider
Dear Dr. Snider,
thank you for your comments. I agree with you that vision therapy needs to a component of any early intervention attempt.
Personal Regards,
Nitin Sethi, MD
Hello,
I am writing about my daughter who is six years old. She seems to be regressing in her speech and gross motor skills. She has hand flapping behaviours in which she does a facial grimace. She has been diagnosed with ADHD, but there seems to be something more.
She reached milestones at par until around two years of age. She was able to speak in sentences, potty trained by a year and a half, would choose clothing and begin to dress herself. Now her speech is muddled and hard to understand due to an articulation delay, dressing herself is a constant battle and she has taken to having accidents or going to the bathroom in her bedroom and hiding it.
We have tried several paths for treatment, none of which have been conclusive for us. We are on a waiting list for a child psychiatrist as well as a team who assesses children for ASD.
I am at my wit’s end and just want to help my daughter. Can you offer any guidance?
Thanks.
Dear Jessica,
thank you for writing in. Your daughter needs to be evaluated to determine the cause of her recent regression in motor and speech milestones. My advise would be to bring this to the attention of her pediatrician. He/ she shall then determine if she needs to be evaluated by a pediatric neurologist in addition to a child psychiatrist.
Personal Regards,
Nitin Sethi, MD
I have read your site with great interest as we too have an 11 year old son who was diagnosed wih a Global Development Delay some 8 years ago.
He has undergone two MRI scans which showed no problems, is this common or is there any other tests that are more appropriate such as EEG or SPECT
Any help more be appreciated as we do need a diagnosis of his condition to try to help his development
Many thanks
Dear Greg,
an EEG is always a good place to start as it yields important information about cerebral function and development.
Personal Regards,
Nitin Sethi, MD
Thanks Dr Nitin
Im banging my head against the wall with his Neurologist who says he does not need an EEG or SPECT scan as the MRI was clear. I just dont believe this do you have any specific evidence to prove that MRI is not the be all end all diagnostic tool for hypoxic or anoxic brain injury. He has been diagnosed with severe global development delay his birth process and care left alot to be desired.
Again fantastic work and thanks for the help
Hi, I have a 13 month old daughter at eight months I brought her in because she was missing milestones by 11 months I had another appointment where she was diagnosed with global delay. She just learned to sit for about a minute using her arms for support. She really has coordination issues with her hands. Tries to bring them to her mouth but cant without using the other to guide it. Her legs seem strong and she can stand while holding on to something. Her hands tend to curl in as well. We had an eeg done and it was found she was having a myoclonic jerk every five seconds. We see them about once every five minutes. No loss of consiousness just a bit of a startle. She had an excessive startle from birth and it carried on till about ten months but has slowed down. She is on Valproic acid 2ml twice daily and it seems that her seizures have calmed (the absence ones have) and half as many or even less jerks throughout the day. Her MRI done yesterday came back clear except for extra fluid in her ears. She smiles, laughs, follows with eyes, is extremly laid back, was extremley floppy but seems to be getting better control. Tries to crawl but can’t quite get there (now she rocks back and forth on her belly to try to move) and has finally started taking steps while we hold her, and paying attention while we read to her (if only for a few minutes). Any idea of what her outcome could be? We are seeing physio home intervention an occupational therapy each once every two weeks (and we give her workouts twice a day) Any idea of what is ruled out with a clean MRI. We are still waiting for blood test to come back. Thanks.
HELLO! I HAVE A NOW 16 MONTH OLD DAUGHTER. FROM BIRTH TO 6 MONTHS SHE WAS THE PERFECT BABY. SHE HIT ALL OF HER DEVELOPMENTAL MILE STONES. SHE WAS HAPPY, SHE PLAYED, SAT UP, GRABBED FOR THINGS ALL IN ALL A NORMAL CHILD. AT 6 MONTHS SHE BEGAN TO REGRESS. SHE IS ABLE TO DO VERY LITTLE NOW A DAYS. SHE BEGAN HAVING SIEZURES, AND CEBRAL PALSEY TYPE SYMPTOMS. WE HAVE HAD EXSTENSIVE TESTING DONE AND EVERYTHING IS “NORMAL”. ALTHOUGH THIS IS FAR FROM NORMAL. SHE IS EVAN BEING FED THROUGH A TUBE IN HER TUMMY. TODAY PHYSICALLY SHE HAS GOT NEXT TO NOTHING BACK. MENTALLY SHE WILL SLIGHTLY SMILE AND SOMEWHAT LAUGH (NOTHING LIKE BEFORE) SHE IN HER OWN WAY TALKS TO YOU (“HUH” IS ABOOUT IT) SHE POUTS (POKING HER LIP OUT) AND SHE WILL KISS YOU. THE DOCTORS HAVE NO ANSWERS FOR US. THERE WAS NO DRUG OR ALCOHOL ABUSE. AND I’M RUNNING OUT OF PLACES TO GO PLEASE HELP!! I’M A DESPARATE MOTHER WHO NEEDS HELP. THIS IS OUR ONLY CHILD. I’M AFRAID TO EVAN HAVE ANOTHER CHILD OUT OF FEAR OF HAVING TO WAKE UP ONE MORNING AND HAVE TO REPEAT THIS TESTING EXPERIENCE. I NEED HELP FOR MY BABY, FOR MY FAMILY!!
Dear Krystal,
I am indeed sorry to hear this. I shall be happy to talk to you over the phone and maybe shed some new light. Email me on neurologistnyc@yahoo.com and I shall send you my office number to call.
Personal Regards,
Nitin Sethi, MD
hello, i was so happy to find this information, my daughter was always behind as a baby just a bit crawled at 11 months, walked at the age of 21 months with AFO’s because week ankles started walking the same day she got them, she has had very poor speech and has been in speech therapy for over two years, she is now 4 1/2. she has been diagnosed with static encephalophy , MRI was clear, she recieves SPT OT an d PT through the public school, i just just wondering about her learning she is able to recite the ABC’s , but not visually point to them, just the asking the letter , but if we says where is b for ball she will get it every time with A- H , is this something normal with her age. But my main concern is her attention span and immaturity, she is very emotional happy and sad, has a hard time with anything to keep her attention, i have read a few places where ADD can also be part of the SE , do you think 4 1/2 is to young for ADD or some type of medication just to see if it may help her concentrate to be able to catch up. her last speech test put her language development at 2 yr and 9 months at the ago of 4. Also any other information on Static Encephaolpathy or ADD would be greatly appreciated.
my niece was a normal appearing infant until about 9 months when we started noticing that she was not meeting her milestones. Then a 9 months she had a seizure, after that she seemed to regress in her behavior. She is now 34 months old and is able to sit alone for a short period of time but then falls over ( but she can not sit her self up she has to be placed in the sitting position). She is not able to crawl or walk either. She has low muscle tone in her legs and she does not even attempt to bear weight on her feet. She also has odd had movements. She has some chewing and swallowing difficulties and still has a tongue thrust. She does not speak. She just this week started having seizures again only now they are mulitple seizure per day. An eeg was repeated at this time showing complex partial seizures. My brother and her mother have been the wringer with her and her health and recentlyl divorced. She has been to mulitple doctors and specialist and had many, many test which all come back NORMAL. She is anything but normal. She recently spent a week at the Rodchester Mayo clinic in october 2009 but that has not yielded any diagnosis either. I have done lots of research over the last few years and alway come back to Rett’s syndome. she has been tested for this in the very beginning and the test was inconclusive. How accurate are the test. What else could be going on with her. We are worried and feel lost and unable to help her. We just want to know what is going on and how to care for her. She is in a special daycare for disabled children where is has been getting physical, occupational, and speech therapy since she was about 1 year old with not change. Any information that you may have we would greatly appreciate.
Thank you so much for you time,
Dear Janet,
thank you for writing in. Rett’s syndrome is a progressive neurodegenerative condition. It presents clinically with a constellation of signs and symptoms. The discovery of the MECP2 gene has made possible the development of a test to aid in accurate diagnosis, detection of asymptomatic female relatives, and detection of the disorder before birth in families with an affected daughter.
That said and done, there are many pediatric disorders which can mimic Rett’s syndrome in their clinical presentation. These include various metabolic disorders, mitochrondrial disorders, leukodystrophies and neuromuscular disorders.
Personal Regards,
Nitin Sethi, MD
Dear Riz,
I did not quite understand your question. Please write in again.
Nitin Sethi, MD
My 6 month old has been diagnosed with 33% global delay with 50-60% in communication and self-help/adaptive. She does not respond to the spoon, sit up, roll over or reach for objects out of her immediate reach. My pediatrician is nonagressive and neruodevelopmental peds in the area have no appts inside of 6 months. She is always smiling and maintains eye contact but has low tone in most of her muscles. I don’t know where to go from here. I have Early Interventions in place but getting medically ahead seems roadblocked. Any advice at all would be most appreciated.
Dear Maria,
thank you for writing in. I can imagine how frustrating it must be for you as a mother. Frustrating and helpless. No doubt your baby needs a comprehensive neurological work-up. There are many conditions which need to be considered and ruled out.
Hmm not sure how to help you further. One way would be to go out of network and consult a pediatric neurologist (someone your pediatrician can recommend). The early intervention is vital and I am glad that you have that in place.
Personal Regards,
Nitin Sethi, MD
For the last three months, my six month old niece has had episodes where her extremities turn red and hot and then get cold and blue. It began with her left arm and now all extremities are involved. Echo showed small pda but nothing that warranted intervention. She recently had a probable stomach virus for a week or two and now has become very listless, stares off into space, no longer coos, and has a head lag when before she could hold her head up well. My sister describes her as “floppy”. Rett Syndrome has been mentioned and they are doing testing. History of gerd and constipation. Do you have any suggestions?
Also, my other 18 month old niece (another sister’s child) has a developmental delay involving speech and motor skills. She will not eat anything with texture, has difficulty swallowing and vomits often, had an abnormal gait that was corrected with physical therapy. She is not talking. Has very little upper body strength. Birth was difficult, and emergency section after a placental abruption at 35 weeks. Nicu for two weeks, lots of blood in lungs. Her pediatrician does not feel like she needs to see a pediatric neurologist. He sent her to a GI doc for the vomiting and “gerd” and a ortho doc for abnormal gait. Suggestions? Thank you for your time.
Dear Dawn,
thank you for writing in to me. While I do not know what plagues your daughter I certainly agree with you that she warrants a good evaluation. The best way to go about this would be to request her pediatrician to refer her to a pediatric neurologist. After examining her the pediatric neurologist may run some tests such as an EEG study of the brain and a neuroimaging study such as MRI. I wish you my very best.
Personal Regards,
Nitin Sethi, MD
Hi, I have a 4 year old who is said to have global developmental delays in gross motor, fine motor as well as language. I have been extremely lucky to access early intervention from a physio, o.t as well as a speech therapist although my child has been recieving these services for over 2 years now she has made personal progress however the gab between her and her peers is getting bigger.
I had a normal pregancy no complications none smoker, alcohol etc. we did have complications at birth with her being put on oxygen, straight after delivery.
Now my question is all 3 specialist i am currently seeing are unsure if my daugther will be able to close the gab but no-one can tell me why i am unsure what my next step should be especially as she is suppose to start preschool next year and she is not even toilet trainned although we have been trying for 2 years now.
can you suggest why a child would not be able to catch up to their peers even with therapy? What would you suggest i do with preschool etc
Really need advise on what to do next to my knowledge she does not have a disablity is this something i should look into?
HI Nitin,
You have writen a fantastic article not only enlighting the parents in greaf but are also educating them who are search hospital to hospital like myself in search of answers. The comments shared by other bloggers are of great help too. I just want to share my story and want to you to direct us in the right direction for therapy and medication.
Me and my wife are not related(i.e. not cousins) we have a baby daughter 2 yrs and 6 months old, she was born from the C section, her mother had a history of high blood pressure during pregnancy, she was not born immature but had a weight of 1.74kgs. She had clift pallet and hypo callicimia. Since her birth she has alomost all the developmental delays her head circumfrance is still of an 8 m old but she has excellent height and weights arround 10 kg . She say few words, cannnot stand without support. Some physical therapy showed positive results in terms of limb sturcture. Clift pallet operated and calcium results are fine now. MRI, EEG, Cyrotyping, Echo, head X ray and Chest X ray, major test of amune system are all perfect.
She is currently on Pirectum. There is still no doctor who could diagnose her accurately.
Kindly help with diagnostic and future strategy.
Regards
Waqas
Dear Mr. Ahmad,
thank you for writing in. I am glad that you found the information presented in the post helpful. You ask a very broad and open ended question in regards to further diagnosis and treatment. All I can advice from here is that she should remain under the care of a paediatrician and that aggressive early intervention (in terms of speech, physical and occupational therapy) should continue. Your baby daughter should be reassessed at frequent intervals to document her growth and development.
Personal Regards,
Nitin Sethi, MD
Hi,
My son is going to be 4 now. We noticed the delay in development as early as 18 months. He has been going to pre- school since then. He has missed most of his milestones towards sitting crawling walking running and cycling. The good part is that he has started to cycle recently. A lot of different words on the internet has kept us anxious all this while. Someone had prematurely mentioned Autism which shook our world since then.
He had a low T39(Throid) diagnosed at 18 months and was on medication for aboout 4 months. The T3 levels are in the normal range now and his medication has been discontinued. My wife had a history of thyroid imbalance, our sons report on the Thyroid was in the normal range at birth.
We are glad with whatever development he has shown in the past. He never responded to his name, he still does not do so often, could not point towards objects or was not potty trained.
All this has changed in the last 6 months with some amount of occupational therapy and special education.
He rarely kicks the ball, has recently started to throw one for a very short distance.
He does flap his hands in excitement sometimes. Does not sit still and not focussed on tasks. His school had suggested for a psychological evaluation.
He has started to repeat a lot of words and started to form some sentences with 5-6 words.
On the Conners Parent and Teachers Rating scale it has been remarked that he falls under Mildly Atypical category for Inattention and Moderately Atypical category for Hyperactivity.
Am scared that the teachers would feel as if their doubts are validated to treat him differntly or suggest otherwise.
He has this uncanny ability to remember songs and sing out the tune of most of them better than most adults can do. We admire his memory towards routes or alphabets or numbers or colors and associatoins between words from different topics and context. He can recall more brands than a 6 or 7 year old.
Stand confused and sometimes have a feeling of helplessness.
Please suggest way forward with a diagnosis.
Regards
Both of my children have had an interesting situation the last 3-4 years. I assumed it was psychological at first, but having investigated that route, I’m pretty certain it is not. They are both gymnasts with high level tumbling and acrobatic skills, however they both have been unable to execute these skills most of the last 3-4 years BACKWARDS, and they’ve never had problems at all doing them going forwards. They want to very much but say their body won’t let them. Occasionally, they will have a small time period where they can do them, and then it reverts back. Any suggestions of how to find help for them? They are both straight A stundents and don’t seem to have any other motor issues. Thank you so much for any response!
Dear Tonya,
thank you for writing in to me. For once I do not have any pearls of wisdom to share. Only advice would be that since you feel this may be organic and not psychological, I would consult a neurologist and take it from there.
Nitin Sethi, MD
I think my grandson has experienced a speech regression from immunization. At seven months he had began saying “pa pa”, “da da” and “ma ma”. We would say it and he would repeat it. He had a batch of immunizations right before Christmas and all speech stopped. He is 9 months and only grunts and babbles now and will not repeat any words like before. My wife tells me not to say anything to my daughter and that I’m worrying about nothing. What should I do.
I am Assessment & Diagnosis Specialist for Child Developmental Disorders
I have a rare case ” Girl 16 year on 9 years she had developmental regression in gross /fain motor Spasticity & speech (Articulation) & Normal cognitive .
all of Medical / Neurological examinations Such as (MRI / CT/ EEG …………………………………./metabolic and genetic study Normal .
Whats this type of developmental regression after 9 years whit normal in her developmental ?
My son is 21 months old and has been diagnosed with Septo Optic Dysplasia. I am opposed to this diagnosis for two reasons; his ophthalmologist hasn’t seen any problems with his vision thus far and until he was appx 4 months old he was reaching or attempting to reach milestones. He was attempting to crawl at 3 1/2 months and then he stopped. He stopped rolling over, he hated tummy time, he just refused to do anything. He wasn’t diagnosed with SOD until he was 9 months old. The neurologist that diagnosed him actually told me I had to be lying about my son being able to do such things in the time frame he did them because he wasn’t doing them any longer. We started him in OT, PT, ST & an early intervention program. He has yet to crawl, walk, talk.. he has begun to roll over again and makes valid attempts to crawl now and we do hear jibberish from time to time but he is no where close to where he should be. I have video of him almost crawling at 3 1/2 months old, I cry when I see it now. I just want to know what is wrong with my baby, what happened to make him stop trying? What took so long to learn these things again? Hoping you can help! Thank you for your time!
Dear Mellybean,
thank you for writing in to me. How was the diagnosis of septo-optic dysplasia made? Did the neuroimaging shows signs of optic atrophy and agenesis of midline brain structures? How is your son cognitively? Does he have any other findings–any history of seizures? Is he floppy (decreased body tone)? Did he have genetic testing? The treatment of SOD is usually symptomatic and early intervention is advised with vision, occupational and physical therapy.
The neurologist shall be the best person to answer all the above questions.
Nitin K Sethi, MD
Hello,
Your little article was more informative than 11 years of never ending doctor vists and neuropsycology evaluations. I had a premature son (8 weeks early) who had developmental delays (significant language and fine motor delays and mild gross motor delays). When he was 2 years old, he started having seizures. He never had mild seizures. They used to come once in 6-7 months and they would always need emergency medical care. He must have had 4-5 such seizures until he was 10. He was steadily making progress in cognitive skills and language skills. He was doing pretty well physically. When he was 9, he got a diagnosis of ADHD and anxiety. His scary (emergency) seizures became milder. Just when we sighed a relief that the worst was over, we started noticing a sleep disorder(insomnia and sleep apnea) When he was 9, He started showing EEG spikes during sleep and his behavior went downhill. It was as if he was on an emotional rollercoaster. He simply couldn’t do as he was told. It was as if he was compelled to do the oppopsite of what he was asked to do. he totally lost time sense. He can’t finish anything without constant reminders. He was okay at school with lowered expectations but his behaviour at home and in social gatherings is noticeable poor. He went from a cheerful likeable boy to a boy with unpredictable temper tantrums(He shows symptoms of aspergers minus the high cognitive/verbal skills). He started regressing cognitively and socially. He didn’t lose the reading and math skills he once had but his executive functions became poorer. His attention, memory retention, organization skills, planning skills have reached a new low.
His clinical regression has been noted only in the areas of “cognitive skills” and “social relatedness”
and since he already has a developmental language disorder, his communication skills have also taken a hit. He is finding it difficult to articulate his thoughts. It confuses him and makes him upset. I am getting more complaints from the teacher, bus driver, friends that he yelled at them. Even people who know him have started to misundertand him.
Now he has a diagnosis of Autism and has been placed in a classroom for a “mild cognitive delay” diagnosis(since they can’t place him anywhere else) at school,
The Neurology team thinks he has a mild case of Landau Kleffner syndrome and a possible mild mental handicap that can be confirmed in adoloscence.
Do you have any advice? How bad is this slow-wave sleep disorder? Just when we found a way to control his active seizures (with a combination of depekote and Felbamate), this new twist came in his development. Real seizures that we could control on time didn’t do any brain damage but “near-seizures” at sleep are causing devastating problems.
Its heartbreaking to see him lose friends and support system at school and in the community. Is there an easy way to explain his problems to the world? Even his cousins, uncles and aunts are misunderstanding him and alienating him. Needless to say his self-esteem and motivation have taken a hit. Can this regression be reversed with proper therapy?
Thanks.
Hello Dr. Sethi,
My Name is Vinay. I have a baby daughter who is 3 months old.She weighs only 1.9 Kgs and she takes limited feedaround 5-10 Ml direct feed and cries only for 5 seconds loudly.. she finds it difficult to express loudly.
History:
we had 2 failed pregency.we took ovulation induction for conception.my wife had LMWH 40 mg daily( Low molecular weight heparin).
We had twin delivery. A baby boy( now 4.9Kgs) doing well and baby girl with the above issue.
During pregancy we were asked to go for a monthly Ultra sound scan.. till 7 months there was a 5 day difference b/w the 2 babies. In the 8th month , we had 10 day gap and we immediately went for a doppler test. We got to know one baby is having hypoxia and immediately went for Csection. This was on 34.5 days .After delivery the baby girl( was 1.4 Kgs ) was in NICU for 45 days and discharged.Boy was discharged after 4 days ( he was 2.2 Kgs)
She was not very active.
The paediatrician adviced and the following tests were done and we found the following:
1. Nuerologist did a brain scan and found no abnormality
2. Her muscles were studied and still no issues
3. We took her blood sample and did a kryotyping and found her normal
Now her wt is 1.9Kgs( 3 months) at birth it was 1.4 Kgs
I am worried and concerned not sure what to do? Pl advise. Let me know a good doctor to consult in Bangalore
Dear Dr. Sethi,
My grandson is 9 months old, but he was 3 weeks premature. I was here taking care of him for 3 weeks after my daughter fired the nanny. I expressed concern that he was developmentally delayed because he was not making any sounds, but he was developing fine and gross motor skills.
I came back one month later, and he has regressed from what he was doing. His fine motor skills are much poorer. He can’t play with toys as well as he could. He was walking with help for at least 30-40 steps. Now when I hold him up to walk he takes 2 or 3 steps and then sits down.
He is also much less responsive. He frequently doesn’t respond when I repeatedly call his name. He doesn’t look to his mother or father when I say mama or dada.
Further, he has become frustrated and rears himself back in a temper fit multiple times throughout the day, when he plays with toys which he can’t make work, or when you take something he is holding, for examples.
I see him staring at things in ways he didn’t before, and he frequently has a somewhat slack, dull look on his face.
He is still responding to some degree, but he doesn’t use any gestures, like shaking his head “no” or pointing, or holding out his arms to be picked up.
I am highly afraid of ASD, and I am going to gently confront my daughter this evening with my concerns AGAIN, but this time it is regression, not delay.
What do you suggest, besides seeing a pediatric neurologist, which I certainly hope she will do soon. And what other conditions besides ASD could be responsible? He has had multiple colds and been coughing through the night for 3 months. He was sleeping through the night before he got sick. Now he awakens twice nightly. I do not believe he is getting quality sleep. My daughter leaves him for 10 hours a day at a daycare center while she works. That’s why I came back out to provide for his care until he can start Montessori day care at 10 months old.
Please help with information.
Many thanks,
Hello there doctor, I have a 3 and half year old daughter who was born 9 weeks prem she was 1lb 16 born and spent just a little over 2 months in the icu, she was born via emergancy c-section, at 20 weeks pregnant she had stopped growing taking food and oxygen and blood supply, the placenta had started to die. At 31 weeks she was born due to not growing and blood flow was going backwards into her heart. Anyway she is nearly 4 in april and she has devolpement delay along with possible autsim poor communication and emotional skills lacks in everything really! I’ve noticed that she has started to take a few steps back as she can talk but has started to point and makes “uh uh uh” noises when she wants something.. Which is becoming very frustrating as me and her dad both know she can talk ( not very well puts 4-6 words together).. She has had bloods done for her croms as she’s still very small now.. Could it be something more than devolpemental delay because lack of blood and oxygen to her brain while I was carrying her?? Please note I didn’t drink or smoke or take any drugs whilst pregnant..
Hi
Where to start, well here it goes we have a son called sam who now is 4yrs 3months old back in November he came home from day care and as we were getting him ready for bed noticed that there was mess in his underware, we thought here comes a bug from day care and cleaned up and of to bed. The next day was very strange our boisterous boy had turned into a arm flapping/waving spinning around in circles giggling idiot, with this he lost all speech and baby sign. (he was delayed in his speech new about 40words was being accessed for a sensory disorder as very rough play) and sleep went as well. Over the next day we worked out he was constipated and took him to the doctor’s, our usual doctor who was away the stand in said it was phyalogical and palmed my wife of we tried laxatives but he was screaming when trying to go, I took him to hospital and they tried to say the same, I would stand for it and after an hour they gave him an enema. 20 min later he filled the toilet bowl, afterwards he would respond to his name but nothing else has come back, our normal doctor who was now back could not believe the change in him and was at aloss to what caused it blood and urine test were done but showed nothing. We have been told he has a mental age of a 18month old and no sign of progress. He was Induced when he was born due to gestational diabetes and they thoughts he was getting to big but birth weight of 8lb12 our oldest son was 10lb2 so he was not to big.the only unusual thing at birth was there was a double not in his cord but lucky not tight and no effects, one other pice of history just before his third birthday he swallowd turps while in the car off his grand parents he was taken to hospital and observed until he started vomiting then they sent him home this was six month before the sudden change. All I can say it was as if a switch flicked overnight Irish it would flick back.
Regards JOn
Hello! My sister adopted a child from an orphanage in St. Petersburg Russia. She was told he was 2 years old. We believed him more likely to be 1 but as you know human age is difficult to determine. Anyway, as a toddler through early elementary he had speech, fine motor and some sensory issues. He began to catch up with his peers and all seemed well. He struggled to be a good student, went off to college and it didn’t go well. He is back at home working and attending Junior College. He was recently (late spring, early summer) diagnosed with sleep apnae. He is using a cpap and his first review went well (from waking 30 times an hour to 5 times an hour). Currently he is unable to write a paper for school. My sister said he spent six hours and wrote a paragraph. Verbally he can tell you the subject material and knows it. My sister said the paper was like a 5th grader wrote it!! This is regression of skills in a 20 year old! Any ideas? I don’t want to scare my sister but I work with developmental disabilities and find this very disconcerting.
hi
my daughter was full term at birth (4.58kg) everything was perfect . she developed severe reflux at about 3 months and refused to drink(breast milk or formula), she sat up at 4 months and was crawling( one leg up) at 6 months and then running at 9months. she never really babbled but could operate a dvd player at 12months. she never suffered from ear infections only tonsils and she never had any of the common child hood illnesses. at about 18 months after a visit to an ent we found that she needed grommets as she could not hear. her speech improved but they syntax was off , I was advised by her preschool teachers that this is normal. until we saw a speech therapist in grade r and then I noticed everything else went wrong she didn’t recognize her number or letters she was reversing her letters, something she never did before( she could write her name at 3 years old , her drawings are amazing).
We then did a hearing test and that was clear , we then did speech therapy for a year with slight improvement.we also went to an opthomolgist to have her eyes tested and nothing was picked up. the problems only got worse in grade 1, she was lost with maths , she did not understand it at all .she could not remember site words and could barely read from memory. we saw a neurologist who diagnosed her with adhd and prescribed Ritalin and advised there might be a ld as well. She began OT in feb last year, according to the ot she is right handed and left eyed , she has low upper muscle trunk and her non verbal iq of 119 her median was at 8 years( she was 61/2 at the time). we saw a improvement in reading and a slight improvement in spelling and maths. she just scrapped through to grade 2 and according to her new teacher shian has regressed she can barely spell at all and her maths is very poor . we then checked her dosage and she was upped to 45mg a day(15mg morn,15mg 11am and 10mg at 3). the teacher says that she is still not fully functioning in the class and was advised to see in what other areas she has also regressed. I received her ot report this week and she has severely regressed there as well, there is now a ten month delay in visual motor intergration, visual memory, visual form constancy and visual closure. her perceptual quotient has also dropped from 119 to 100. her muscle tone has improved but tripod grip remain poor and her handwriting has become worse.They will only do ld assessment in South Africa when a child is Grade 3 and this mom is beyond worried, no one can clearly say what is wrong with my daughter are you perhaps able to advise?
regards Cindy