What is autism?
Autism is a set of heterogeneous neurodevelopmental conditions, characterised by:
- early-onset difficulties in social communication
- unusually restricted, repetitive behavior and interests
How common is autism?
The worldwide population prevalence is 1%. Autism affects more males than females. Comorbidity is common (more than 70% have concurrent conditions).
Individuals with autism have atypical cognitive profiles:
- impaired social cognition, social perception, and executive dysfunction
- atypical perceptual and information processing
These profiles are underpinned by atypical neural development at the systems level.
Is it hereditary?
Genetics has a key role in the etiology of autism, in conjunction with developmentally early environmental factors. Large-effect rare mutations and small-effect common variants contribute to risk.
What is the treatment?
Early detection is essential for early intervention. Early comprehensive and targeted behavioral interventions can improve social communication and reduce anxiety and aggression.
Drugs can reduce comorbid symptoms, but do not directly improve social communication. Creation of a supportive environment that accepts and respects that the individual is different is crucial.
Autism - The Lancet http://bit.ly/1h1TpyN
What is autism?
Cerebral palsy encompasses a large group of childhood movement and posture disorders.
Overall prevalence has remained stable in the past 40 years at 2—3.5 cases per 1000 livebirths, despite improvements in antenatal and perinatal care.
Cerebral palsy is a lifelong disorder.
Cerebral palsy - The Lancet http://bit.ly/1h1SXR4
Author: V. Dimov, M.D.
Let's look at the terms used to describe adverse reactions to food:
- adverse food reaction - any untoward reaction to food or food additive
- food allergy (FA) - reaction that has immunologic mechanism (IgE-mediated or non-IgE-mediated)
- food intolerance or sensitivity - reaction that has nonimmunologic mechanism
- oral allergy syndrome (OAS) - "urticaria of the mouth" - local reaction to raw fruits and vegetables due to cross-reactivity between aeroallergen (pollen) and food allergen
However, a patient may have both intolerance AND allergy to the same food - e.g. milk - lactose intolerance AND milk allergy.
Any food can cause food allergy in theory but there are 8 most common food allergens. More than 90% of food allergies are due to:
- egg, milk, peanuts, tree nuts - the 4 most common food allergens in children
- soy, wheat, fish, and shellfish - these 4 tend to start later in life, in adults
Symptoms of food allergy
- cutaneous - hives occur in 80% of significant food allergic reactions
- gastrointestinal (GI) - cramping, diarrhea, vomiting
- cardiovascular - low blood pressure
- strangely and rarely, some children may exhibit only central nervous system symptoms, e.g. somnolence
- anaphylaxis - systemic allergic reaction that involves multiple organ systems
Anaphylaxis is the most dangerous manifestation of food allergy ("nuclear bomb") and typically has a rapid onset. This is an "Epi moment" - an event that must be recognized and addressed promptly.
Clinical manifestations of anaphylaxis may vary from mild to fatal:
- cutaneous - hives and/or angiodema
- respiratory - wheezing
- GI symptoms
The best treatment of anaphylaxis is immediate administration of epinephrine auto-injector. The auto-injector (e.g., EpiPen, Twinject) must be available at all times. This is an "Epi moment". After administration of epinephrine, call 911 for transport to ED. If no response to epinephrine within 5 to 10 min, repeat the dose.
Some small studies suggest the use of activated charcoal to bind the ingested food allergen in the stomach. However, this cannot be recommended for children due to potential for aspiration.
Diagnosis of food allergy
Skin prick testing is helpful when negative becuase it has a high negative predictive value. Skin prick testing can be problematic when positive because of false-positive reactions. Do not use intradermal skin tests - they are dangerous and have a high false-positive rate.
Treatment of food allergy
When to give epinephrine?
In any food allergy reaction that extends beyond the skin, or if the child becomes unstable, confused, somnolent, etc. Simple rule: "If it is more than the skin, the Epi goes in."
Do not give antihistamine in place of epinephrine.
Auto-injectable epinephrine devices
Administered between knee and hip. Some studies suggest that 15-35% of patients with an anaphylactic episode required a second dose of epinephrine.
- EpiPen auto-injector available in “2-Pak” - 2 injectors.
- Twinject contains 2 doses in one device - the second dose is “hidden” inside device. However, the second dose must be administered by another individual/parent with a needle and plunger.
What happens after using an EpiPen?
This is an "Epi moment". After using the epinephrine auto-injector, the symptoms should resolve within 1 to 2 minutes. If they do not, give a second dose.
Children and parents should be encouraged to use expired device to practice auto-injection technique on grapefruit or orange fruit.
The use of medical identification alert jewelry is recommended, e.g. MedicAlert bracelet.
Similarly, to asthma action plan, a food allergy action plan (FAAP) should be available to patients. One version is provided by the website of the Food Allergy & Anaphylaxis Network (FAAN).
Oral immunotherapy for food allergy
Patients with peanut allergy can be desensitized by giving peanut in small incrementally increasing doses until a maintenance dose reached. There is a high rate of reactions to this therapy and the results are still not conclusive. The studies of oral immunotherapy for food allergy are ongoing.
Practical Management of Food Allergies. Michael J. Welch, MD. Audio-Digest Pediatrics, Volume 56, Issue 01, January 7, 2010.
Author: V. Dimov, M.D.
National Heart, Lung, and Blood Institute (NHLBI) guidelines for diagnosis and management of asthma (2007) are only available online. Key concepts:
- severity dictates therapy
- distinction between intermittent and persistent asthma - "rule of 2s”
- 4 levels of asthma severity - intermittent; 3 sublevels of persistent
- inhaled corticosteroids (ICS) preferred for all levels of persistent asthma
- use of asthma action plans
- spirometry recommended
Rule of 2s - if symptoms are present for more than 2 days per week or for more than 2 nights per month, asthma categorized as persistent. Within this category, disease must be classified as mild, moderate, or severe. However, as severity of asthma not constant, must monitor patients for changes; as severity changes, therapy should change too.
The category of “mild intermittent” asthma was eliminated in the 2007 guidelines - now it is just called “intermittent” asthma.
The concepts of “impairment”, “risk”, and “control” were introduced in the 2007 guidelines:
- impairment - refers to symptoms
- risk - refers to likelihood that the patient will eventually have exacerbation of asthma and present to emergency department (ED) or hospital, or need course of oral corticosteroids
- control - refers to the level of patient’s asthma control
ICS therapy probably does not make difference in prevention of airway remodeling.
Classification of asthma severity:
- impairment domain - daytime and nighttime symptoms (rule of 2's), use of short-acting beta-agonist (SABA), interference with normal activities
- risk domain - number of exacerbations per year (if more than 2, daily controller medication is needed). Increased risk is conferred by parental history of asthma or history of eczema.
Childhood Asthma Control Test (ACT) is validated down to age 4 yr. Adult ACT questionnaire should be used for teenagers (cutoff age is 11 years).
- step 1 - SABA as needed
- step 2 - low-dose ICS monotherapy vs. leukotriene receptor antagonist (LTRA)
- step 3 - low-to-medium dose ICS plus long-acting beta-agonist (LABA)
- step 4 - high-dose ICS therapy plus LABA and (if needed) systemic corticosteroids. Omalizumab (Xolair; anti-IgE antibody) is prescribed before placing patient on daily oral corticosteroids.
Which ICS to choose?
- delivery system best for patient’s developmental stage
- optimal lung deposition
Particle size may play a role in lung deposition of ICS - ciclesonide (Alvesco) has smaller particle size that results in good lung deposition.
New NHLBI guidelines for asthma: is anything really new? Michael J. Welch, MD. Audio-Digest Pediatrics, Volume 56, Issue 01, January 7, 2010.
Author: V. Dimov, M.D.
The diagnosis of acute otitis media (AOM) requires:
- middle ear effusion and inflammation - bulging of tympanic membrane (TM) - the single most important criteria
- otorrhea may be present
- limited or absent mobility of TM
- air-fluid levels may be present
Questions to ask:
- is pain intermittent or constant?
- does pain wake child at night?
- does pain interfere with normal activities?
- history of tympanocentesis?
Diagnostic tools - tympanometry, acoustic reflectometry and pneumatic otoscopy.
Many symptoms of AOM overlap with simple OM with effusion (OME). However, bulging TM or otorrhea clearly indicate AOM.
Diagnosis of AOM can be made on clinical grounds alone - otorrhea or bulging opacified and discolored TM.
Management of pain in AOM - NSAIDs are better than acetaminophen (Tylenol) because they control the inflammation (Tylenol does not).
Benzocaine drops provide only very temporary relief. Myringotomy provides instant relief of bulging TM.
Microbiology of AOM:
- Streptococcus pneumoniae, 50%-35% - the incidence is decreasing due to immunization
- nontypeable Haemophilus influenzae, 40%-55% - incidence is increasing
- Moraxella catarrhalis, 5%-10%
- viruses alone, 5%-10%
Amoxicillin alone does not work for nontypeable Haemophilus influenzae and Moraxella catarrhalis - you have to use Augmentin.
Resistance of S. pneumoniae to beta-lactam agents due to penicillin–binding protein is a growing issue. The resistance can be overcome by high serum levels in 80% of patients.
50% of H. influenzae and 95% of M. catarrhalis isolates are beta-lactamase positive and will not respond to penicillin V or amoxicillin.
For nonsevere illness, amoxicillin, 80 to 90 mg/kg per day in 2 divided doses for 5 to 10 days
For severe illness or symptoms for longer than 48 hr, use amoxicillin-clavulanate 80 to 90 mg/kg per day; or cefdinir, cefuroxime, or cefpodoxime. Cefdinir has advantage of pleasant taste - tastes like strawberry.
One alternative for noncompliant patients who may be lost to follow-up is a single shot of ceftriaxone 50 mg/kg intramuscularly (IM).
Antibiotic choice for penicillin-allergic patients
If there is history of non-IgE-mediated to penicillin and nonsevere reaction, use cephalosporin.
If there is history of severe IgE-mediated reaction to penicillin, cephaloridine, cephalothin, or cefoxitin should be used with caution.
Indications for IM ceftriaxone as therapy for AOM:
- vomiting, inability to tolerate oral medication
- noncompliance due to refusal of medication or unreliable caregiver
If there is a failure to respond to primary treatment within 48 to 72 hr, consider the possibility of wrong diagnosis or wrong antibiotic.
Switch to amoxicillin-clavulanate (90 mg/kg per day), cefdinir, cefuroxime or cefpodoxime, or IM ceftriaxone (50 mg/kg) for 1 to 3 days (one dose is often enough).
In recurrent AOM consider the following:
- breastfeeding rather than bottle feeding
- reduce group day care attendance - smaller centers preferable
- stop passive tobacco smoke exposure
- look for allergic rhinitis or immuno deficiency
Upper respiratory tract bacterial infections. S. Michael Marcy, MD. Volume 55, Issue 18, September 21, 2009.
Children chewing xylitol gum were 25% less likely to develop acute ear infections. NYTimes, 2011.