http://braindiseases.info

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Another place where you can read some of my thoughts is my website http://braindiseases.info

I appreciate all my readers comments. If you have a partcular neurological problem and are willing to share the history with others online, I shall be more than happy to discuss it with you.

I have got some angry comments from my readers regarding my post on Fibromyalgia (you can read all the comments, as I did post them online). I appreciate these comments and it just goes to show that we still have a long way to go before we truly figure out fibromyalgia. It is important that patients and doctors discuss this disease entity rather than sweeping it under the carpet.

So keep those comments coming!!!

Nitin Sethi, MD

Persistent vegetative state and minimally conscious state

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In this post I thought I would talk a little about persistent vegetative state (PVS) and minimally conscious state (MCS). Though this topic may not concern many of you, I feel it should be discussed as the question of PVS is raised frequently by family members of patients who are in coma.

Doctor is he brain dead? Would he wake up? If yes when? Is he going to be a “vegetable” for the rest of his life?

So what is PVS and how does it differ from brain death. I shall try to make this simple and explain with the aid of a crude example. Let us assume a person suffers major head trauma in a motor vehicle accident. He is brought to the hospital and CT scan shows extensive bleeding in the brain. He is in the intensive care unit on a mechanical ventilator while his blood pressure is been supported with the help of medications (we call such medications vasopressors). Now a neurologist is called to see him regarding prognosis. On examining him the neurologist notices that his pupils are dilated and fixed (do not react to light) and the rest of his brain stem reflexes are also not elicitable (please see my previous post on brain death). An EEG is ordered to confirm the diagnosis of brain death. The EEG shows no cortical (brain) activity above 2 microvolts (meaning it is essentially a flat line) and is thus consistent with electrocerebral inactivity (ECI). SUCH A PERSON IS BRAIN DEAD AND CAN THUS BE REMOVED FROM THE VENTILATOR (OF COURSE WE TAKE THE FAMILY’S WISHES INTO CONSIDERATION). BUT FOR TECHNICAL PURPOSES HE IS DEAD. Remember what I said earlier one cannot die twice, once when the brain stops and once when the heart stops.

Now lets take the second scenario. The neurologist examines the patient and notices that he does not respond to verbal commands, does not respond to a painful stimuli such as a pinch but the brain stem reflexes are intact. His pupils react to light, he gags when the back of his throat is touched, he takes a gasp on his own when he is temporarily disconnected from the ventilator. THE NEUROLOGIST RIGHLY SAYS” PATIENT IS NOT BRAIN DEAD BUT HIS PROGNOSIS FOR RECOVERY IS GUARDED“. Time goes by say about a week. The patient is now still in the intensive care unit but at times responds when he is stimulated, does not open his eyes or talk but moves his arm if he is pinched. More time goes by say about 2 weeks. The patient is now opening his eyes. He now has a tracheostomy and slowly is been weaned off the ventilator. He is still not able to talk and does not interact with any of his nursing staff or his family. More time goes by, the patient has been weaned off the ventilator. He is now out of the intensive care unit and is transferred to the hospital floor. A neurologist’s opinion is asked for as “the patient does not respond”. The neurologist examines the same patient whom he had seen in the aftermath of the trauma. 10 weeks have gone by since the injury. The neurologist finds that the patient open his eyes spontaneously, at times even yawns, he is told by the family at bedside that the patient has sleep wake cycles (meaning he sleeps at night and then wakes up after some time just like any other “normal” person).  As the patient’s mother walks into the patient’s room, the neurologist notices that the patient tracks her with his eyes for a short time when she enters. But there is no meaningful interaction of the patient with his environment. It is as if the patient is there but not there. He does not make purposeful eye-contact with anyone. There is nothing in his actions to suggest that he is truly responding to those around him or interacting with them. The tracking movements of the eyes are semipurposeful and so is the yawning behavior–more like a reflex if not anything else.

A person like the one above may be labelled as one who is heading into the persistent vegetative state (PVS) category. You can imagine the delimma for the family members if you tell them that though the patient may remain “alive” for years, he shall never have any meaningful neurological interaction and hence it is better to let him go. “BUT DOCTOR HE IS ALIVE, HE YAWNED TODAY, HE LOOKED AT ME WHEN I WALKED INTO HIS ROOM”: they will say.

Patients who are truly in the PVS shall never recover any meaningful neurological interaction with the environment–this is by defination. But as is true in medicine, everything is not black and white. there are shades of grey. Patients who meet the criteria for PVS but then who later on start showing “some” recovery. Some purposeful goal directed behavior starts emerging. So a new category of minimally conscious state has not come into the literature. There have been some studies done to show that the brains of these patients do actually respond and they are far from a PVS. A lot of research is now been carried out to determine how we can benefit these patients.

If the right procedure is followed and the neurological examination and relevant investigations are carried out and repeated if required after an interval of time, most of these patients can be rightly categorised into the brain dead, PVS or MCS category thus avoiding confusion and anguish to the family members.

Nitin Sethi, MD

Sleep apnea syndrome: how to identify it and what to do?

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Sleep apnea syndrome or SAS is a relatively common sleep disorder. As the name suggests patients who have SAS have episodes of apnea during sleep (meaning they have episodes where in they stop breathing as they sleep). Usually patients who have sleep apnea are obese (overweight), have a large neckand snore during sleep. It is usually their sleeping partners who notice that the patient stops breathing during sleep. The patients themselves may not be aware of the fact that they stop breathing at night. They however do complain of feeling sleepy during the day (we refer to this as excessive daytime sleepiness or EDS) and of feeling tired and fatigued. Patients with SAS may frequently fall asleep while watching TV, sitting by themselves and reading or at times even while driving.

SAS has in the recent past gained more attention from the medical community. Studies have shown that patients who have SAS especially that which remains untreated have increased incidence of elevated blood pressure, coronary artery disease and even strokes. As these patients are overweight, this too adds to the risks of both CAD and strokes.

SAS can be of two types. Obstructive sleep apnea (OSA) and central sleep apnea (CSA). The difference between them is quite technical but clinically they both present in the same way.

So who all should be evaluated for SAS. A person who is overweight, has a thick short neck, who snores loudly at night and complains of feeling sleepy during the day should be evaluated for SAS. SAS can occur in children too but here the causes are slightly different. One important cause which needs to be ruled out in a child is enlarged tonsils or adenoids (enlarged tonsils and adenoids obstruct and narrow the air passages).  Some people may also have an enlarged tongue or their facial structure is such that the structures inside their mouth are all crowded. These patients too are predisposed to SAS.

Diagnosis of SAS: so how is the diagnosis of SAS made? Well a good clinical history and examination shall suggest the diagnosis to the doctor. To confirm and grade the degree of SAS we ask for what is called a sleep study. You come into the lab for an overnight sleep study. I call it a lab but it is more like a bedroom in your own house. We place electrodes on your head to look at your brain waves, electrodes to measure the air as it moves in and out of your nose, a device to detect when you snore, a device to detect if you have limb movements at night etc.  Then you are allowed to fall asleep and it is while you are asleep that we detect if you indeed do have apneic spells at night and we grade how severe your apnea is (there are standarized grading scales available for this purpose).

A report is generated and your doctor then tells you what kind of SAS you have: is it OSA or is it CSA and how severe it is.

 

Treatment of SAS: so you have SAS. What to do about it? Depending upon the severity of the SAS, the treatment varies. If it is mild, all your doctor may ask you to do is to try to lose weight and change the position in which you sleep (SAS is worse if you sleep on your back, as the tongue falls back obstructing the air passages, on the other hand if you sleep on your side, the tongue falls to one side and your air passage remains open). We actually tie a small tennis ball on the patients back so that he does not roll back onto his back. If the SAS is moderate to severe, your doctor may recommend what is called a CPAP machine. CPAP stands for continuous positive airway pressure. This is a small device which is placed besides the patient’s bed at night and through a tight fitting mask it blows air into the patients mouth and nose. This keeps the air passages patent preventing them from collapse and thus abolishes SAS. It takes time to get used to a CPAP machine as sometimes the mask is too tight and patients cannot sleep as the machine keeps making a little noise and blowing air into them. That said and done a CPAP machine is the treatment of choice for moderate to severe SAS. What pressure to set the machine at, is determined during the sleep study by the technician. We use the minimal pressure which would abolish all the apneic events.

Some surgical options are also available but these need to be discussed with your doctor. There is a specific subgroup of patients who gain benefit from surgery.

 

Nitin Sethi, MD

 

Coma and other altered states of awareness

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In this post, I thought i shall talk about coma and other altered states of awareness. What do we mean when we say a patient is in coma? Just what does coma mean?

Coma has been defined differently in different medical and neurology textbooks. In simple terms it means a patient who has decreased conciousness to the extent he is not aware of his surroundings and does not respond when stimulated by the external means even when the stimulus is noxious or painful like a pinch applied to the skin of the nipple. These patients are usually seriously ill and are in the intensive care unit of the hospital. As they are unaware of their external surroundings they need to be supported, meaning that their diet has to be maintained, their fluid status, making sure they are not constipated etc.

There can be numerous causes for coma. some of them are related to the brain itself and some of them are systemic, that is they affect the body.

1) Neurotrauma: head injuries frequently can lead to a coma with loss of consciousness sometimes for prolonged periods of time. Intracranial hemorrhage or bleeding into the brain is one cause of this. This bleeding raises the intracranial pressure and this compresses the brainstem and hence leads to coma.

2) Large stroke: a large stroke can lead to loss of consciousness and coma. Again a large stroke frequently leads to an increase in intracranial pressure and this leads to a depression in the state of awareness and coma.

3) Infections of the brain like meningitis and encephalitis may also lead to a state of coma.

4) Large tumors of the brain can also present with depression in sensorium (decreased consciousness) and coma.

5) Frequent seizures one after the other (this condition is referred to as status epilepticus): patients may be unresponsive even though they are not visibly  “shaking” (that is there are no convulsive movements but patients are unresponsive because their brain is still having seizures).

6) Anoxic hypoxic injuries to the brain: anoxia is lack of blood flow and oxygen to the brain. This kind of coma is frequently irreversible.

7) Systemic causes of coma: metabolic conditions like low sodium (hyponatremia), low blood glucose (hypoglycemia), metabolic acidosis ( as seen in diabetic ketoacidosis), liver dysfunction (cirrhosis), renal dysfunction and renal failure, congestive heart failure, hypercapnia (where there is too much carbon dioxide in the blood) all are common causes of coma.

8) Toxins: ingestion of toxins like drugs of abuse, heavy metals, insecticides, overdose of antidepressants, pain killers, sedatives can all lead to coma.

 

As the causes of coma are protean, when patients present to the hospital in a comatosed state, we do a rapid triage and try to localize the etiology of the coma. Blood is drawn to check for sodium, potassium, liver and renal functions and glucose. If there is some evidence that an infectious etiology is the cause of coma we may draw blood for culture and do a spinal tap to examine the spinal fluid to rule out meningitis. Depending upon the history and examination findings other investigations may be carried out like CT scan brain, MRI brain, Chest X-ray, EEG and so on.

The treatment of “coma” depends upon the cause of coma. Frequently as I stated above these patients need to be admitted to the intensive care unit and need respiratory and circulatory support. Depending upon the cause of the coma, they may or may not need neurosurgical intervention. If there is a big bleed in the brain and the intracranial pressure is too high, the blood may need to be removed (evacuated). These patients may need broad spectrum antibiotic coverage if they have an infection or an antiepileptic drug if they are having seizures. If toxin or drug ingestion is the cause, then we try to remove the toxin or drug from the blood stream with the aid of an antidote.

Nitin Sethi, MD

Post Concussive Syndrome

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In this post I thought I would talk a little about what is called post concussive syndrome (PCS). Before we discuss PCS, we need to understand just exactly what is a concussion. Unfortunately though there has been realms of data generated on this, the word concussion still remains quite ill-defined in the medical literature. Basically it refers to a brief loss of consciousness. Lets use an example. You are in the ring against Iron Mike. You have your right and left going but walk into one of Iron Mike’s jabs. Boom your legs give away under you and you are on the mat unconscious seeing “stars”. You are “out” for a few seconds and then boom you come out and are looking up at the referee to ask “where am I? what happened to me?”

Concussion may then also be referred to as a minor head trauma or rather a minor closed head trauma accompanied by brief loss of consciousness. Closed since there is no breach in the skull. The head injury occurs but nothing penetrates the skull. Concussions are thus common and they may occur during a MVA, sports related concussions are common (injuries during football, ice-hockey, boxing and other contact sports where blows to the head may occur). The exact mechanism why there is that bried period of unconsciousness which then resolves and the person wakes up is not fully elucidated. The thinking is that during the concussion, the brain is subjected to mechanical and kinetic forces which “shake” the brain inside the rigid cranium. The brain though is free to move inside the skull, it is attached by the brainstem which is relatively immobile. So as the brain turns on its axis, there is transient dysfunction of the brainstem and this leads to loss of consciousness and the person blacks out.

Concussions are usually not life threatening and the patient comes around in a few seconds to a few minutes. Those associated with a prolonged period of unconsciousness though need to be evaluated in the hospital to make sure there is nothing serious or structural such as an intracranial hemorrhage (bleed) into the brain or outside the brain but inside the skull (epidural hematoma).  There are guidelines with respect to sports related concussion injuries and usually the doctor at the side of the play field makes a decision whether it is safe for the player to play again during that game or should he sit out the rest of the game. Multiple concussive injuries increase the risk of sudden death (no one quite knows by what exact mechanism) and hence concussive injuries in professional players like those who play football do deserve special attention.

Let us now turn to what is called PCS. Again there has a lot which has been written about PCS but this syndrome is ill-defined and its etiology is far from clear. Patients who have suffered a concussion frequently complain of memory problems following the concussion. Apart from memory difficulties these patients may complain of mood changes been too irritable or short tempered, balance problems and unsteady gait, dizziness, headaches, fatigue and lack of energy. This constellation of signs and symptoms with a preceeding history of concussion is what has been referred to as PCS. When these patients present to neurologists, we investigate them but most of the time all the tests come back as “normal”. Their imaging studies like CT scan head and MRI brain are normal.

PCS is usually treated symptomatically. If headache is the major complain we treat the headache. If dizziness is the major complaint we treat with an antivertigo drug. At times low dose antidepressants may be helpful. The natural history of this condition is good and most patients recover in due course and are able to go back to their day to day life.

Nitin Sethi, MD

 

When and how to seek a second opinion-a patient’s perspective

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When and how to seek a second opinion-a patient’s perspective

 

NK Sethi 1, PK Sethi 2

 

1 Department of Neurology, Comprehensive Epilepsy Center, NYP-Weill Cornell Medical Center, New York, NY (U.S.A.)

2 Department of Neurology, Sir Ganga Ram Hospital, New Delhi (India)

 

 

 

 

 

 

 

Address for Correspondence:

NK Sethi, MD

Department of Neurology

Comprehensive Epilepsy Center

NYP-Weill Cornell Medical Center

525 East, 68th Street

New York, NY 10021 (U.S.A.)

Email: sethinitinmd@hotmail.com

 

 

There are times when a second opinion is not only appropriate, its necessary. This is true both from the patient’s as well as the doctor’s perspective. Since the patient technically has more to lose, it is imperative that patient’s know when and how to seek a second opinion. This is more significant in clinical neurology especially when one is handed down a diagnosis of a neurodegenerative condition like young onset Parkinson’s or Huntington’s disease. Diagnosis of a disease like amyotrophic lateral sclerosis (ALS) is essentially like signing off on a death sentence. Patients and caregivers are distraught and may not know what to do. Some may trust their doctor and agree to his or her management plan. But what if he is wrong? Maybe there is something out there that may help me. Maybe my doctor does not know about it. Even if the diagnosis is correct some may not be comfortable with the line of care. It is at times like these that the question of seeking a second opinion crops up.

Is my doctor right? is frequently he first question that comes up in the minds of many patients when handed down a diagnosis of a chronic or life threatening illness. Could he have made an error? Patients and caregivers may approach this in a couple of different ways. Some will inherently trust their physician skill entrusting themselves to his care. Others may seek to reassure themselves of the certainly of the diagnosis in one of many ways either by asking more questions of their physician or seeking information on the Internet. A fraction may decide to seek a second opinion. A question, which arises in the minds of some patients and caregivers, is would my doctor mind if I request a second opinion. Would he take it personally? Most doctors do not get upset if their patient requests a second opinion but some do. Many doctors may actually encourage their patients to get a second opinion especially if they have a rare condition or an atypical presentation. In these times of increased medical litigation, one form of defensive medicine practiced by doctors is to get a second opinion.

Now the question arises whether you want your doctor to suggest a specialist or do you want to do the spadework yourself. Having your doctor refer you to a specialist for a second opinion has many advantages. It may cut down on your time and effort and more importantly ensure that you are seen by someone who truly is a specialist in the malady that plagues you. Your own doctor may be willing to pick up the phone and call the specialist to apprise him of your case history. Relevant investigations can be quickly faxed to the specialist office. This ensures you are seen in a timely manner. Importantly the specialist has all pertinent records including results of tests down at his disposal at the time of your visit. Remember if you go to see a specialist without lab results, his opinion is at the most limited.

One must ask oneself what do I seek from the second opinion? Is it confirmation of my diagnosis? My diagnosis is confirmed but I want to know what treatment options are available or I just want a better explanation for my disease. Stick to what you seek from your second opinion and do not get side tracked.

Go prepared at the time of your second opinion visit. As your time with the specialist is going to be limited so make the best of it. Have your case history summarized. A good way is to have it typed out in a chronological order. When did the problem start, how did it progress and the treatment options that have been pursued. This shall save precious time and ensure that the specialist has all relevant data at his disposal prior to giving a second opinion.

Are there any cons to seeking a second opinion? While there are no real cons to seeking a second opinion, certain issues should be borne in mind. Remember there is no guarantee that a second opinion is right. The specialist may or may not voice the same diagnosis as your primary doctor. One can get side tracked and end up wasting precious time and money. Time and money that could have been used to begin treatment earlier. Do not get into the trap of doctor shopping, shopping till you get an opinion that you want to hear. Too many opinions have the potential for confusing you and leaving you undecided.

Seeking a second opinion is your prerogative as a patient but use it wisely.

ALS: dealing with terminal issues

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It is June 29th Sunday as I pen this. I want to discuss about the issues which arise in the care of a terminally ill ALS patient. ALS as you know is a progressive neurodegenerative disorder characterized by the loss of anterior horn cell neurons in the spinal cord as well as in the brain stem (for more information read my earlier posts on ALS at http://braindiseases.info). As more and more anterior horn cells die, patients become progressively more incapaciated. They become weak losing first the ability to ambulate on their own, then wheel chair dependent and finally bed bound too weak to even feed themselves or take care of other activities of daily living. Throughout this their cognitive abilities remain relatively intact and they do not have memory issues. However as bulbar (brain stem) dysfunction occurs they are unable to speak and even unable to swallow or manage their own salivary secretions. Bladder and bowel function as well as eye movements are preserved till late in the disease course. No one quite knows why these functions are selectively preserved while the others are so affected. They also start having difficulty with breathing as they are unable to manage their salivary secretions and unable to cough if something enters their trachea.

As you can imagine the family as well as the patient have to deal with many issues. Thankfully there is much out there which can make life easier for these patients and their caregivers. Motorized wheel chairs are available which help in ambulation. Some of them are quite advanced and can even be operated by voice commands. Devices which serve as finger/ hand extensions are available and these can be of immense use to these patients if they want to pick something out like from the cupboard. Artificial voice devices are also available and hence patients are able to communicate their needs. Patients feel their independence is not lost and that is extremely important.

As bulbar functions deteriorate and secretion control becomes difficult it is important that something be done. Most of these patients need a tracheostomy finally but we can avoid it at least for a while with the aid of devices which produce an artifical cough. Mechanical insufflation-exsufflation devices (also known as In-Exsufflator, Cofflator, or cough machine) alternate positive and negative airway pressure to stimulate cough. These devices clear secretions by gradually applying a positive pressure to the airway and then rapidly shifting to a negative pressure thus stimulating a natural cough. Their use has been shown to decrease the occurence of respiratory infections in patients with ALS. Moreover they are non-invasive and easy to use.

Feeding becomes an issue and so is the maintainence of nurtitional status. While initially nasogastric tube feeding can be used, most of these patients finally need what we call PEG feeds. This is a tube placed by the surgeon into the stomach (the procedure is quite safe and simple actually). Once the PEG tube is in place, all the medications as well as feeds can be given via it.

I would advise patients and caregivers to discuss end of life issues at some point, even though these discussions are unpleasant and hard on everyone involved. Get in touch with the ALS association which shall be able to advise you further about devices out there which make life easier.

There is always hope and one must never lose it!!!

Nitin Sethi, MD

 
 

The human brain: the world’s foremost supercomputer

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Read a fascinating post in the Wall Street Journal by By ROBERT LEE HOTZ titled ” Get out of your own way”. The author reports on studies and ongoing research into how our brain makes a “conscious” decision.

Let me take an example to explain the above. Suppose you are in a market place looking for apples. You are standing by the basket which is full of red apples. You look at the apples and are trying to pick just the “right” juicy ones. Then you make a choice and reach in and pick up the apple you wanted. Now you may think this is a conscious act, conscious decision making went into picking the apple. Research though shows that the human brain is far more superior and faster.

Even before you make the choice, the brain has already made its choice and knows which apple it wants from the lot. And that is the apple you finally pick up.

Functional MRI scans show that parts of brain are activated 10 seconds before the decision reaches the consciousness. This research sheds new light into the functioning of the human brain and the speed of its computation power. When the human brain is presented with choices, it is able to analyze countless permuations and combinations. How does our brain do this? How could the human brain defeat the worlds most advanced supercomputer in a game of chess. Surely the supercomputer would have been better with numbers and analyzing various possible chest moves. Like I said before, we still do not know how the brain actually works. But one thing which differentiates us from a machine is we think but we can think with emotions too. I can “cheat” in a game of poker or chess to throw you off. A computer once you understand how it works  or “thinks” you know it shall not work or “think” in any other way. A computer shall not cheat you.

A human brain on the other hand is never stationary. It has the unique ability to form new thinking processes. So now lets get back to our apple story. If the brain in few seconds has already made the choice it thinks is the right one (in this case the right apple) and that is the apple you finally pick up, then there may be some truth to the old saying of “going with your gut feeling”.

Overthinking a decision may not always be great. You go into a car dealership and are flip flopping over which car to buy. Thinking and rethinking your decision. Hmmm now you may say, it is a big buy and one must think through it well. True but the brain it seems has already decided and from what we know it has probably made the right choice as soon as you entered the dealership. If the first thing which crossed your mind was ” I want that red ford” well then probably that is what is right for you.

Now you may rethink and change your decision but it may not be the best one.  I find this concept fascinating and it just amazes me how the brain works. It is truly the world’s foremost supercomputer powered by God not intel!!!

Personal Regards,

Nitin Sethi, MD

Developmental delay Vs developmental regression

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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