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
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Tags: MRI, static encephalopathy, progressive encephalopathy, developmental delay, developmental regression, cerebral palsy, milestones, genetic testing
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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.
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
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
We need your help with our son,He is 6 years old,he is in kindergardon,the dotor told us he may have Encephalopathy,His problems are learning disabilities , speech delay , oral motor problems.Please get back with us A.S.A.P. Thank you
John & Aimee Padilla
Dear John and Aimee,
thank you for writing in. Unfortunately you give me little information as there can be numerous causes of encephalopathy. Email me at neurologistnyc@yahoo.com. I shall give you my office number. I shall be more than happy to talk to you over the phone and help you further.
Personal Regards,
Nitin Sethi, MD