What Are Factors that Make Children More Resilient to the Effects of War?

Patient Presentation
A 15-year-old male came to clinic for his well child examination. He and his immediate family had been in a refugee camp for a period of time after fleeing armed conflict in central Africa. They had moved to Europe and had been in the United States for 2 years. He was doing well in school and was playing on the junior varsity high school soccer team and the track teams. The family had received support services from several sources including a local religious organization and he had had mental health services for the first year after immigration. He usually slept well and denied major intrusive thoughts. He said that sometimes he had flashbacks to their flight from their home country and time in the refugee camp but usually would think about them for a while and then thinks about other things. He said that sometimes loud noises would bother him but he realized why he would jump and then think about what he was doing before the noise. Occasionally he would worry about his own or his families’ personal safety. He said that he talked with his parents about these issues which his mother verified. “I think we all are doing pretty well. He has good friends now and is doing well in school. I don’t think he’s too worried or scared. We all are going to think about things that happened or be scared at times. That’s normal, but I don’t think any of us are having any real problems,” his mother stated.

The pertinent physical exam showed a healthy tall male with normal growth parameters. He had some well-healed scars on his arms. The diagnosis of a healthy male who was a survivor of armed conflict was made. The physician offered to assist the family with any needs particularly for mental health issues as they arose. A review of his medical records showed that the scars were from a knife fight in the refugee camp. He was also fully immunized, but the dates were at minimum intervals as the camp health care providers would immunize everyone in the camp when they made their regular scheduled visits.

Discussion
It is estimated that more than 1 billion children live in countries with armed conflicts and wars (war). The people most affected by war are children and women. A visual global conflict tracker to see active conflicts can be seen here.

War events that a child might be exposed to include:

  • Victim of violent acts
    • Physical violence such as rape, torture or physical injury, imprisonment, drugs, sex-trafficking
    • Mental – threats of violence to self or family member, verbal and emotional abuse
    • Child soldier – often forced to kill or wound others
    • Suicide bomber
  • Witness to violent acts
  • Combat or similar event exposure (i.e. explosions, gunshots)
  • Loss of loved ones
    • Death
    • Family separation
      • Abduction
      • Child separated from the family
      • Job-related such as separation from parents who are in the military
  • Displacement
  • Loss of basic human needs – water, food, clothing, shelter, medicine
  • Loss of basic protections – security, legal status
  • Hostility from other groups of people

Risk factors for long term dysfunction include:

  • Dose affect is the main predictor of the degree of distress and long-term function. Children experiencing more events and more severe events generally experience more distress and are more likely to have continued problems
  • Age – older children or adolescents are at higher risk, probably because they are more likely to be directly involved and also comprehend the situation more
  • Gender – but depends on specific circumstances and events the child is exposed to

In addition to the obvious physical needs and problems these events can cause, the mental health problems are enormous including increased immediate and long-term anxiety, depression and potentially post-traumatic stress disorder. Long term studies of childhood survivors of war have found that they have overall poorer health (particularly an increase in cardiac problems) and mental health outcomes seen even when they are elderly.

Interventions that are needed immediately for children and families affected by war include meeting basic needs of clean water, food, shelter, sanitation and clothing and providing security. Longer term needs include economic opportunities for the families and educational activities for the children. School helps provide routine and academic skills for the child, child care for parents, and potentially acts as a venue for mental health services. Treatment intervention studies for children exposed to war are not as numerous, but some have found that pre-exposure training to violent episodes may have some improved outcomes, as well as group mental health services provided afterward.

The terminology describing persons who flee because of war can sometimes be confusing, but the number of people affected is staggering. The United Nations High Commissioner for Refugees uses the following characterizations:

  • Refugees
    • Are persons fleeing armed conflict or persecution or who are forcibly displaced and who cross an international border
    • They are officially recognized according to international and national laws and receive protection and assistance under those laws
    • The basic principle is that refugees cannot return to their home country without their life and/or freedom being threatened
    • 19.5 million worldwide in 2014
  • Migrants
    • Are persons choosing to cross an international border often to improve their life by improved education, work, reunification with family or other reasons, that do not meet the definition of a refugee
    • They are recognized by national laws through immigration laws
    • Migrants can return to their home country and be protected by the laws of their home country
  • Internally Displaced Persons (IDPs)
    • Are fleeing armed conflict, persecution or forcible displacement but who move within their own country and do not cross an international border
    • As IDPs have not crossed an international border legal protections for them are mainly national laws. It can therefore be more difficult for IDPs to receive appropriate protection and assistance
    • 38 million people in 2014. It was almost 30,000/day new people affected in 2014.
  • Asylum Seekers
    • Are people who claim to be a refugee but the claim has not been definitively evaluated by the national asylum systems
    • The national asylum systems can evaluate the claims individually or by entire groups of people such as with mass movements usually secondary to obvious violence within an area
    • 1.2 million people in 2014
  • Stateless People
    • Are people not considered a national by any country often because of discrimination, change in international borders or problems with nationality laws
    • United Nations conventions are the primary legal protection of stateless persons
    • 10 million people

Learning Point
Although war events are truly tragic, recovery and resilience are the norm for survivors after these severe events. This does not mean that children and families do not have ongoing issues even years later, but humans are resilient and can integrate these experiences in ways that still allows them to be functional, creative and hopeful people. Qualities which seem to have a protective, promotive or mitigating effect on the effects of war that allows a person to have good developmental and mental health outcomes despite the adversity is termed resilience.

Factors that improve resilience to exposure to war include:

  • Individual
    • Internal locus of control
    • Defense mechanism use – altruism or use of humor
    • Strong belief that the world and life has meaning – having faith and hope
    • Coping or having emotional regulation
    • Family
      • Strong caregiver and child bond – parent support appears to be one of the most important
        “Remaining with parents in a war zone may serve to protect a child more than evacuation without the parents.”

      • Family cohesion
      • Better maternal mental health
      • Additional caregiver availability
      • Higher socioeconomic status
      • Language skills
    • Community
      • Social supports from other members of the community who have experienced same/similar events such as teachers and peers
      • Shared community values
      • Acceptance by the community – particularly important for former child soldiers
      • Religious belief
      • Responsibility for welfare and protection of others
      • Positive school experience after event

Research on survivors of other severe life events, particularly natural disasters, have found similar, but not exactly the same results for resilience factors.

Questions for Further Discussion
1. What are ACEs (adverse childhood events)?
2. How would children in foster care be similar to children who have survived war?
3. What are the criteria for post traumatic stress disorder?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Post Traumatic Stress Disorder, Teen Violence and Veterans and Military Health.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Know your Numbers.

Masten AS, Narayan AJ. Child development in the context of disaster, war, and terrorism: pathways of risk and resilience. Annu Rev Psychol. 2012;63:227-57.

Werner EE. Children and war: risk, resilience, and recovery. Dev Psychopathol. 2012 May;24(2):553-8.

Drury J, Williams R. Children and young people who are refugees, internally displaced persons or survivors or perpetrators of war, mass violence and terrorism. Curr Opin Psychiatry. 2012 Jul;25(4):277-84.

Tol WA, Song S, Jordans MJ. Annual Research Review: Resilience and mental health in children and adolescents living in areas of armed conflict–a systematic review of findings in low- and middle-income countries. J Child Psychol Psychiatry. 2013 Apr;54(4):445-60.

United Nations High Commissioner on Refugees. Know your Numbers. Available from the Internet at http://www.unhcr.org/pages/49c3646c11.html (rev. 2001-2015, cited 9/28/15).

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital

What are the Most Common Arboviruses in Children in the US?

Patient Presentation
During a discussion about travel-related diseases, several residents were discussing various viruses and the need to counsel about mosquito prevention. One resident noted, “Did you know that Chikungunya was recently found on the mainland US. I think last summer.” Another resident asked, “What is the most common arbovirus that we see in kids? I don’t really don’t know. I’m also not sure I really know the clinical findings. ” No one was sure of the answer including the attending physician, so they decided to look it up.

Discussion
Arboviruses are viruses transmitted by arthropods (primarily mosquitos and ticks) to humans. Most infections are asymptomatic. Many others have mild symptoms such as an influenza-like illnesses. But for some patients they can cause neuroinvasive disease with meningitis, encephalitis and flaccid paralysis. Some patients also unfortunately die.

Diagnosis is by serum or cerebrospinal fluid IgM antibody to the specific virus. Treatment is supportive only as there is no specific treatment and currently there are no vaccines for prevention. Mosquito bite and tick bite prevention are the best options for families and can be reviewed here.

A systematic review of West Nile Virus (WNV) neuroinvasive disease in adults showed those infected can have a lengthy recovery with many sequelae, particularly muscle weakness, fatigue, myalgia and headache commonly along with memory loss, depression and concentrating difficulty.

Common arbovirus characteristics include:

  • West Nile Virus
    • Flavivirus
    • Transmitted by Culex mosquito with birds as reservoir
    • Seen in areas of Africa (originally identified in 1937 in Uganda in the West Nile District), Europe, the Middle East, North America and West Asia
    • Has spread to most states in the United States and many Canadian provinces and is the most common reported arbovirus in children
    • Older children and teenagers seem to be more common
    • Incubation period usually 2-6 days, but 2-14 days is possible
    • 70-80% asymptomatic, 20% influenza like illness (i.e. headache, nausea, emesis, fatigue), <1% have severe symptoms
  • LaCrosse Virus
    • Orthobunyavirus
    • Transmitted by Aedes triseriatus that breed in tree waterholes. Chipmunks and grey squirrels are amplifiers
    • Incubation period usually 5-15 days
    • Most commonly seen in Midwest, MidAtlantic and southeastern U.S.
    • Most asymptomatic, some with influenza like illness, few have severe symptoms but children (especially younger) are more likely to have them than adults especially
  • Eastern Equine Encephalitis Virus
    • Alphavirus
    • Transmitted by Culiseta melanura with birds as reservoir
    • Most commonly seen in US, Atlantic and Gulf states but also Great Lakes region
    • Incubation period usually 4-10 days
    • May be asymptomatic, can have abrupt onset of neuroinvasive disease. Has a high rate of death
  • Powassan Virus
    • Flavivirus
    • Transmitted by Ixodes ticks with small woodland mammals as reservoir – only one of the major viruses to be transmitted by a tick
    • Most commonly seen in US Northeastern and Great Lakes region
    • Incubation period is 1 week to 1 month
    • May be asymptomatic but can have mild or severe symptoms

    St. Louis Encephalitis

    • Flavivirus
    • Transmitted by mosquitos with birds as reservoir
    • Seen across the US but more often in Mississippi Valley and Gulf Coast
    • Incubation period is 5-15 days
    • May be asymptomatic but can have mild or severe symptoms
  • Western Equine Virus
    • Alphavirus
    • Transmission by mosquito with birds as reservoir
    • Mainly see in western US
    • Incubation 5-10 days
    • Maybe asymptomatic but can have mild or severe symptoms
  • Chikungunya
    • Alphavirus
    • Transmitted by mosquitos particularly Aedes aegypti and Aedes albopictus with humans as reservoir during epidemic periods
    • In the world it is seen in Africa, Asia, Europe, and the Indian and Pacific Oceans. In the US, most domestic cases are from Puerto Rico and the US Virgin Islands, but first case on mainland was in July 2014.
    • According to the CDC “As of September 22, 2015, a total of 467 chikungunya virus disease cases have been reported to ArboNET from 39 U.S. states for 2015.”
    • Incubation usually 5-7 days but the range is 1-12 days
    • Most people are asymptomatic, may have more fever and polyarthralgia or severe symptoms

Some other mosquito – borne diseases include Dengue Fever, Japanese Encephalitis Virus, Malaria, Rift Valley Fever, Yellow Fever. Some other tick-borne diseases include Babesiosis, Colorado Tick, Ehrlichiosis, Lyme disease, Q Fever, Rocky Mountain Spotted Fever, and Tularemia.

Learning Point
Cases of arbovirus are underreported because may people are asymptomatic or have mild disease. For cases of arbovirus induced neuroinvasive disease in the United States for all age group the most common is West Nile Virus (WNV) with LaCrosse virus (LCV) second. But for the <18 year old age group, ArboNET data from 2003-2012 shows that LaCrosse virus is most common with West Nile Virus being second, and Eastern Equine Encephalitis Virus (EEEV) third. Other reported viruses included Powassan, St. Louis Encephalitis and unspecified California serogroup virus. These 6 viruses along with Western Equine Encephalitis Virus and Chikungunya Virus are reportable viruses as of 2015. There was a total of 1200 cases of neuroinvasive disease from 2003-2012 resulting in 22 deaths in the pediatric age range. WNV and LCV reported 1% death rates (N=3 and 9 respectively) in the pediatric population, but EEEV had only 30 cases but 10 of them unfortunately died (33%).

Questions for Further Discussion
1. What other vector-borne diseases can you name?
2. What are the similarities and differences of Chikungunya and Dengue?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: West Nile Virus and Insect Bites and Stings.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Centers for Disease Control. General Questions About West Nile Virus. Available from the Internet at http://www.cdc.gov/westnile/faq/genquestions.html (rev. 3/15/15, cited 9/22/15)


Centers for Disease Control. La Crosse Encephalitis Frequently Asked Questions. Available from the Internet at http://www.cdc.gov/lac/ (rev. 9/16/2009, cited 9/22/15)


Centers for Disease Control. Eastern Equine Encephalitis. Available from the Internet at http://www.cdc.gov/EasternEquineEncephalitis/index.html (rev. 6/23/2011, cited 9/22/15)


Centers for Disease Control. Powassan Virus. Available from the Internet at http://www.cdc.gov/powassan/index.html (rev. 2/9/15, cited 9/22/15)


Centers for Disease Control. Saint Louis Encephalitis. Available from the Internet at http://www.cdc.gov/sle/ (rev. 1/29/2010, cited 9/25/15)


Centers for Disease Control. Chikungunya Virus. Available from the Internet at http://www.cdc.gov/Chikungunya/index.html (rev. 8/3/15, cited 9/25/15)


Gaensbauer JT, Lindsey NP, Messacar K, Staples JE, Fischer M. Neuroinvasive arboviral disease in the United States: 2003 to 2012. Pediatrics. 2014 Sep;134(3):e642-50.

Patel H, Sander B, Nelder MP. Long-term sequelae of West Nile virus-related illness: a systematic review. Lancet Infect Dis. 2015 Aug;15(8):951-9.

Lindsey NP1, Lehman JA, Staples JE, Fischer M. West Nile Virus and Other Nationally Notifiable Arboviral Diseases – United States, 2014. MMWR Morb Mortal Wkly Rep. 2015 Sep 4;64(34):929-34. doi: 10.15585/mmwr.mm6434a1.

Author

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital

What Is the Rate of Stuttering Recovery?

Patient Presentation
A 6-year-old female came to clinic with sore throat and fever for 1 day. She had had 3 days of rhinorrhea. She was drinking and urinating well and denied other pain, rash, nausea or emesis. The past medical history revealed a history of stuttering that began around age 3 and started causing social problems when she entered kindergarten as peers starting to make fun of her. She had started private speech therapy about 1 year before the visit.

The pertinent physical exam showed a slightly tired appearing female with a temperature of 38.2°C, respiratory rate of 20/minute, and heart rate of 106/minute. HEENT revealed a reddened pharynx with white patches on her tonsils bilaterally. There was small anterior cervical adenopathy. The rest of her examination was normal. The laboratory evaluation of a rapid strep test was positive. The diagnosis of strep throat was made and penicillin was prescribed. During the visit, the pediatrician had remarked to the mother how much she thought the child’s stuttering had improved. The mother responded that it had “really improved” and they were probably going to stop the therapy soon.

Discussion
Stuttering is defined as to utter with involuntary repetition of sounds. This commonly occurs in young children especially of initial sounds (Li-li-li-like he can’t do that!) but it can be whole word repetition (Like-like-like he can’t do that!). Stuttering as a normal utterance markedly decreases by age 6, so by age 7 if the child has stuttering the child should be evaluated by a professional speech and language pathologist (SLP). Indications for referral to a SLP for stuttering and other problems can be found here.

A recent review of stuttering epidemiology found:

  • Initiation of stuttering occurs usually before age 5, most often around 3 years of age
  • Females are more affected than males
  • Higher socio-economic status has been shown to occur in some studies, but there are methodological problems with some of the studies
  • Overall life incidence of 7-8%, and prevalence of <1%
  • Genetic studies have found that ~70% of stuttering may be due to genetics and have found a variety of candidate genes on numerous chromosomes depending on the type of study.

Treatment for stuttering in the past has tried a variety of pharmacological treatments with conflicting results as to efficacy and potentially serious negative side effects. Behavioral interventions with SLPs are the mainstay of treatment for patients and families. Behavioral treatment is defined as “…interventions that involve a change in speech behavior through (a) the direct modification of the person stuttering, (b) operant procedures, or (c) in integration of both approaches.” Some examples of behavioral treatments includes:

  • Speech motor training where language is broken into smaller parts and relearned through several methods. These parts are then used in word and sentence formation that becomes increasing complex over time
  • Delayed auditory feedback where the patient hears their own speech but with a slight delay which hopefully helps them to slow their speech rate. The feedback delay is then decreased over time to no delay, with hopefully retained normal speech rate over time.
  • Gradual increase in speech complexity is where one word fluency is achieved with a slow rate of speech, and gradually the words are combined into longer and more complex sentences.
  • Extended utterance length is similar to gradual increase in speech complexity but fluency is initially at the syllable level
  • Smooth speech is based on prolonged speech treatment where fluency is improved by smooth initiation of words and transitions between words

Many studies have evaluated the % of syllables stuttered as an efficacy measure. In a recent systematic review and meta-analysis, behavioral interventions (N=9 of 4 different behavioral treatments) decreased syllables stuttered by 1 standard deviation usually which was clinically significant for the patients. Five of the studies evaluated the Lidcombe Program developed at the University of Sydney and found it to provide consistent improvement. In this program where the premise is that the parent provides therapy to the child on a daily basis in their own home, the patient and family sees a SLP weekly to provide direct therapy. The SLP also works with the parent in particular to provide feedback to their child daily in their own home and evaluate the stuttering daily. The information is reviewed at the next weekly session. This continues for approximately 1 year until particular ends points are reached. The direct SLP sessions become less frequent but still occur to “maintain” the previous level of improvement, and hopefully have continued improvement.

Learning Point
Rates of stuttering recovery are very high and newer data may indicate even better recovery. Traditionally 85% stuttering recovery has been cited, but newer data cites recovery as closer to 90% and maybe even higher.

Questions for Further Discussion
1. What type of speech and language therapy is available in your location?
2. What are indications for a hearing test?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Stuttering and Speech and Communication Disorders.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

University of Sydney. Lidcombe Program. Available from the Internet at http://sydney.edu.au/health-sciences/asrc/clinic/parents/lidcombe.shtml (rev. 09/24/12, cited 9/21/15)

Ward D. Risk factors and stuttering: evaluating the evidence for clinicians. J Fluency Disord. 2013 Jun;38(2):134-40.

Yairi E, Ambrose N. Epidemiology of stuttering: 21st century advances. J Fluency Disord. 2013 Jun;38(2):66-87.

Nye C, Vanryckeghem M, Schwartz JB, Herder C, Turner HM 3rd, Howard C. Behavioral stuttering interventions for children and adolescents: a systematic review and meta-analysis. J Speech Lang Hear Res. 2013 Jun;56(3):921-32.

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital

What Are the Clinical Presentation of Charcot-Marie-Tooth Disease?

Patient Presentation
A 2-year-old male came to clinic for his health supervision. The mother was concerned that he was somewhat clumsy. “It’s always seems like he will just fall down for no good reason. He has bruises on his shins that I’ve noticed too,” she complained. “He’s pretty active and keeps up with his older sister and other kids though. Nothing stops him” she related. The past medical history showed a full-term infant without any pre- or peri-natal problems. His development had been tracking and by developmental screening questionnaire during the office visit was also on track. The review of systems was also normal. When reviewing the family history the mother became serious. “I wanted to bring up the falling down, because at our family reunion this summer I found out that one of my cousin’s sons has just been diagnosed with Charcot-Marie-Tooth disease. My cousin’s wife wasn’t worried about it, so I didn’t think anything at the time, but then I looked it up on the Internet and found out there can be real problems that get worse. It’s really bothering me and I’m wondering if we should test him for it?” she asked. The mother said that that the affected child was diagnosed at age 8 after he was noticed to have problems with writing that the teachers complained about. The mother said, “The boy’s father is my first cousin on my father’s side. The boy’s mother married into our family and said at the reunion that she has no problems.” The boy’s siblings are well also. The patient’s sister was a healthy 4 year old, and there were no neurological diseases in either side of the family that the mother was aware of or early infant deaths.

The pertinent physical exam showed a well-appearing male with normal vital signs and growth parameters. He scribbled on a chalkboard appropriately in the room, walked and climbed up onto the examination table and chair from the floor without difficulties. His extremities showed a few scattered bruises on his shins in various stage of healing. Cranial nerves III-XI were intact. He had good muscle bulk, strength, tone and normal deep tendon reflexes. No clonus or muscle wasting was noted. He was able to get up from a seated position on the floor without difficulties (i.e. no Gower sign) and appeared to have a normal gait for age walking and running. The rest of his examination was negative.

The diagnosis of a healthy 2 year old was made, but with a new diagnosis of Charcot-Marie-Tooth disease in a second cousin. The pediatrician said, “By what you’re telling me and his normal physical exam he looks like a healthy normal boy to me at this time. I haven’t read about Charcot-Marie-Tooth for quite a while so I would need to look that up to be able to know if your children should be tested. Do you think that your cousin would be willing to share more information about his son? Having the exact name, and what the boy’s doctors have told the parents about who else in the family might need to be tested would be really helpful.” The mother said she would talk with her cousin. A few weeks later, the patient’s sister returned for her own health supervision visit. The mother relayed that the affected boy had been diagnosed with a X-linked form of Charcot-Marie-Tooth and therefore the boy’s mother’s family was most likely affected and were being informed. “My cousin said that at this time the father’s family, like us, doesn’t need to be evaluated but I’m going to keep in touch with my cousin about this. They also said that the boy should do very well over time but will probably have more problems with handwriting and doing other things like tying shoes. I’m just glad that he will be OK,” the mother explained.

Discussion
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy, is the most common cause of inherited neuropathies affecting 10-82:100,000 individuals. CMT comprises a heterogeneous group of peripheral, chronic inherited neuropathies that affects both the motor and sensory neurons and which have different genetic causations. Charcot and Marie were both French neurologists and Tooth was a British neurologist who described distal muscle wasting in 1886. Dejerine and Sottas reported the infantile form in 1893 which bears their name for this more severe clinical subtype. CMT classification is advancing as new testing becomes available but currently is classified as:

  • CMT1
    • Most common variant of CMT (70%)
    • Autosomal dominant
    • Has different subgroups but the most common subgroup is CMT1A which codes for a peripheral nerve protein 22 on chromosome 17
    • Identified most often with classic clinical presentation (see below)
    • Has slow nerve conduction and demyelination
  • CMT2
    • Autosomal dominant
    • Clinical indistinguishable from CMT except for nerve conduction studies
    • Has near normal nerve conduction and no demyelination
  • CMT3 or Dejerine-Sottas disease
    • Autosomal dominant or recessive
    • Has hypertrophy of nerve fibers often described as an “onion-bulb” in appearance on biopsy
    • This is the classic infantile onset clinical presentation (see below)
    • Has very slow nerve conduction times and demyeliation
  • CMT4
    • Autosomal recessive
    • Rare with distinct phenotypes
  • CMTX
    • Second most common form of CMT (10%)
    • X-linked dominant
    • More severe in males than females. Females may have few symptoms.
    • Have slowed nerve conduction times

Learning Point
Clinical phenotypes of CMT are often describe as classic and then age based.

  • The classic phenotype is being able to walk on time around 12 to 15 months of age but with the development of weakness or sensory loss over the next 20 years. Symptoms slow after that time but patients usually require few ambulatory aids.
    This is commonly found for CMT1A and men with CMTX.

  • Infantile onset shows patients that do not begin walking on time. There are severely affected and likely to require ambulatory aids by the age of 20.
    Examples are some patients with CMT3 and CMT1.

  • Adult onset where patients may have no symptoms until middle age. This is common in some variations of CMT1 and women with CMTX.

“The neuropathy of CMT is length dependent, which means that the longest nerves in the body are affected first and most severely.” Lower extremities are usually affected before the upper extremities.

Symptoms vary greatly by individual and subtypes. Patients often come to attention because of difficulties in walking or running including toe walking, tripping or falling, or just general clumsiness for gross motor movement. There also may be foot (pes cavus or hammar toes) or ankle injuries because of the muscle weakness. Upper extremity symptoms may not come to attention until the child has to perform fine motor movements such as tying shoes, dressing or writing. Infants may have hypotonia, hip dysplasia and feeding problems.

On physical examination muscle weakness and wasting can be subtle or obvious. Wasting is often seen in the hands. Sensory nerve abnormalities are often less prominent but decreaseed joint position and vibration tend to be more affected than temperature or pin prick sensations. Gait abnormalities are common depending on severity and individual compensation.

After diagnosis which often requires neurology and genetic evaluations, patients and families may need treatment. Treatment has to be individualized to preserve quality of life, particularly mobility, being the most important. Multidisciplinary treatment including physical therapy (focusing on range of motion, strengthening and balance) occupational therapy (improving activities of daily living and handwriting) and orthopedic surgery (to maintain ambulation and decrease pain associated with structural and functional problems) are important for families.

Questions for Further Discussion
1. What are causes of peripheral neuropathy? See a Review here
2. What are distinguishing features between a neuropathy and a myopathy?
3. What data do you use to determine if a family member needs screening or diagnostic testing for a potential disease?
4. What are the ethical issues of genetic testing for minor children?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Charcot-Marie-Tooth Disease

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Yagerman SE, Cross MB, Green DW, Scher DM. Pediatric orthopedic conditions in Charcot-Marie-Tooth disease: a literature review. Curr Opin Pediatr. 2012 Feb;24(1):50-6.

Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneap Minn). 2012 Feb;18(1):39-59.

Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am. 2015 Jun;62(3):767-86.

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital