What is Vocal Cord Dysfunction?

Patient Presentation
A 6-year-old male came to clinic for left ear pain during a respiratory illness, that had occurred for 2 days. The evening prior he had a fever to 101.2°F. The past medical history was positive for vocal cord dysfunction diagnosed after stridor, coughing and voice changes that would not improve after a previous viral illness.

The pertinent physical exam showed a current temperature of 100.8°F, respiratory rate of 26 and pulse of 96. He looked tired. HEENT showed erythematous bulging left tympanic membrane with distorted landmarks and dull right tympanic membrane. He had copious rhinorrhea and his throat was normal. Lungs were normal as was the rest of his examination.

The diagnosis of left otitis media was made. The patient was started on antibiotics. The medical student asked the attending physician to explain why the patient was seeing the speech therapist for the vocal cord dysfunction.

Discussion
Vocal cord function involves balancing muscular and neuronal functions. The superior laryngeal nerves (SLN) and recurrent laryngeal nerves (RLN) are the main nerves responsible for sensation and motor innervation. There are two sides to the larynx and they operate ipsilaterally, therefore one side can be affected while the other is not.

Vocal cord paresis or paralysis are “an impairment of the vocal fold motor function that is caused by nerve or neuromuscular abnormalit[ies].” Paresis involves some maintenance of vocal cord movement while paralysis does not. Paresis is also more of a continuum than an absolute movement or not. “Paresis is often considered idiopathic, but potentially any pathology present from skull base to mediastinum that compresses, tethers, stretches, or infiltrates contributing fibers to the SLN or RLN may cause abnormalities.” Common examples in children would be post-viral infections, Lyme disease, neoplasms, and cardiovascular defects and cardiovascular surgery, but many others causes occur. Paralysis is often caused by necessary surgical interventions such as patent ductus arteriosus surgery causing trauma to the RLN as it is a long nerve and traverses multiple body spaces.

Symptoms can include cough, choking, globus sensation, voice changes, dyspnea and feeding difficulties among others. The diagnostic standard is direct visualization while awake when the patient may be able to assist in producing various sounds or types of breathing. Treatment involves speech therapy but the smaller the vocal cord movement the more likely other interventions will be needed including various surgical procedures.

Learning Point
Vocal cord dysfunction (VCD) is a functional disorder and “… is the abnormal closing (adduction) of vocal cords during inspiration and/or expiration.” Patients or parents complain of dyspnea, air hunger, chest or air tightness, dysphonia, hoarseness and globus sensation. Patients (50%) with difficult to control asthma may also have concomitant asthma. Signs include stridor or expiratory stertor, but it may be difficult to trigger during physical examination.

Spirometry may show abnormal flow-loop curves during inspiration or during inspiration and expiration depending on when the abnormality occurs. Flow-loops may be normal between episodes and not show up during the examination. VCD can be exercise-induced (most common) or spontaneous. Exercise-induced is often easier to identify as it occurs more consistently with exercise, whereas spontaneous occurs intermittently and seemingly with or without disparate provokers.

Treatment is speech therapy to teach patients voluntary control of the vocal cords. This is helpful but can be a problem during exercise. Pre-exercise treatment with anticholinergic inhalers (such as Ipratropium) can be used as one option. Long-term data shows a high rate of spontaneous resolution of VCD.

Questions for Further Discussion
1. What causes coughing? A review can be found here
2. How do airway malacias present? A review can be found here
3. What is the difference between stertor and stridor? A review can be found here

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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Voice 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.

Ivey CM. Vocal Fold Paresis. Otolaryngol Clin N Am. 2019:637-648. Accessed December 21, 2021.

Graham ME, Smith ME. Unilateral Vocal Fold Immobility in Children. Otolaryngologic Clinics of North America. 2019;52(4):681-692. doi:10.1016/j.otc.2019.03.012

Kaplan A, Szefler SJ, Halpin DMG. Impact of comorbid conditions on asthmatic adults and children. NPJ Prim Care Respir Med. 2020;30:36. doi:10.1038/s41533-020-00194-9

Hurvitz M, Weinberger M. Functional Respiratory Disorders in Children. Pediatric Clinics of North America. 2021;68(1):223-237. doi:10.1016/j.pcl.2020.09.013

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

What Are the Genetics of Multiple Endocrine Neoplasia (MEN)?

Patient Presentation
A 4-month-old female came to the resident continuity clinic for her health maintenance appointment. The patient was well but one parent had multiple endocrine neoplasia type 1 (MEN1). The family had already seen the geneticist and molecular testing was pending. They had met the resident during the genetics appointment and wanted to transfer their primary care to the regional children’s hospital so that all of their care was in one place. The past medical history revealed a healthy term female who was the first baby for these parents. The family history was positive for MEN1, and also for diabetes and lymphoma.

The pertinent physical exam showed a happy baby with growth parameters around 50% and normal vital signs.
The physical examination was normal.
The diagnosis of a healthy female with risk of MEN syndrome was made. “We know that if she has MEN then we won’t need to do a lot until she is around school age, but we think it’s best to have all of her care in one place. That way if things change then all of you can work together,” the parents explained. The resident and staff pediatricians discussed with the family that they would oversee all of her regular primary care and would work to schedule any surveillance testing needed in the future. “The oncology group has a multidisciplinary group that follows patients at risk for various cancers and once we know about the baby we can talk about possibly referring you to that team as well,” the staff physician said.

Discussion
Primary care physicians often work as part of a health care team. Their job can be particularly important for helping oversee intermittent or ongoing surveillance for various diseases. Some of the challenges are changes in clinical guidelines or treatment for uncommon diseases, timelines for evaluation that are in the future (particularly several years), and communication between various health care providers especially across locations or health systems. It is not surprising that families with children with special health care needs may move closer to their providers and consolidate their care within one health care system.

Like many diseases, multiple endocrine neoplasias (MEN) have been a known entity for many years, but the understanding of their genetics has exploded in the past few years. Molecular diagnosis has made this diagnosis easier along with the important genetic counseling of family members as this is mainly an autosomal dominant disease with high penetrance. MEN requires a multidisciplinary team to monitor the patient (as well as the literature for changing practices) over many years. Some centers have clinical specialists who do cancer screening and monitoring for diagnoses which carry increased risks such as MEN, Beckwith-Widemann syndrome, etc.

Learning Point
One challenge of MEN is that there are multiple tumor types that can be observed. Below is an overview of the most common tumors and known genetics:

  • MEN Type 1
    • 2-20/100,000 persons affected
    • Genetics
      • Autosomal dominant on chromosome 11q13 with > 1000 germline mutations noted
      • Changes menin which is a cellular scaffolding and signaling protein
      • 90% are inherited and 10% sporadic
    • Penetrance
      • 0% at age 5 years
      • 50% by age 20 years
      • 95% by age 40 years
      • Onset is 5-81 years though
    • Diagnosis made with
      • > 2 MEN1 related tumor, or
      • 1 MEN related tumors and positive family history, or
      • Molecular diagnosis
    • Main tumors
      • Parathyroid – hyperparathyroidism is most commonly seen
      • Pituitary
      • Pancreatic neuroendocrine tumors
    • Treatment
      • Surveillance starts around age 5 with annual biochemical screening and scheduled imaging.
      • Tumor treatment is multi-disciplinary including oncologists, surgeons and endocrinologists
    • Outcomes poorer as tumors tend to be larger, multi-focal or more aggressive
  • MEN Type 2
    • 2.5/100,000 persons affected
    • Genetics
      • Autosomal dominant on chromosome 10q11.2 with multiple mutations
      • 95% are inherited and 5% sporadic
      • Changes RET pro-oncogene which is a transmembrane tyrosine kinase receptor
    • Penetrance
      • As early as age 3 years
    • Diagnosis made with multiple tumors, family history and molecular diagnosis
    • Main tumors
      • Medullary thyroid carcinoma – affects nearly all patients
      • MEN2A – pheochomocytoma and hyperparathyroidism (afffects 75% of all MEN2 patients)
      • MEN2B – pheochromocytoma, mucosal and gastrointestinal tumors
      • Familial – only medullary thyroid carcinoma
    • Treatment
      • Surveillance starts around age 5 with annual biochemical screening and scheduled imaging
      • Tumor treatment is multi-disciplinary including oncologists, surgeons and endocrinologists. This includes consideration of prophylactic thyroidectomy because of the high risk of medullary thyroid cancer.
    • Outcomes have improved with earlier detection especially in younger children. If detected later in adolescence, there is a decrease in survival.
  • MEN Type 4
    • Described in 2006
    • 9 pedigrees identified
    • MEN1 like tumors

Questions for Further Discussion
1. What other diseases have high potential cancer risks and patients which need monitoring?
2. What resources for genetic counseling are available locally?
3. How do you view your role on a multidisciplinary team?

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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Endocrine Diseases and Cancer in Children.

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.

Giri D, McKay V, Weber A, Blair J. Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence. Arch Dis Child. 2015;100(10):994-999. doi:10.1136/archdischild-2014-307028

Concolino P, Costella A, Capoluongo E. Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years. Cancer Genetics. 2016;209(1-2):36-41. doi:10.1016/j.cancergen.2015.12.002

Wasserman JD, Tomlinson GE, Druker H, et al. Multiple Endocrine Neoplasia and Hyperparathyroid-Jaw Tumor Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017;23(13):e123-e132. doi:10.1158/1078-0432.CCR-17-0548

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

Who’s Afraid of Needles?

Patient Presentation
A 7-year-old male came to clinic for treatment of possible needle phobia. He had received a vaccine at another facility and had required multiple providers to restrain him to complete the procedure. His mother described an escalation of a fear of needles over at least 2 years. He did not have other fears in other settings nor was he described as an anxious child. He said he didn’t like thunderstorms because of the noise but wasn’t worried about them. A chart review did not show any previous mental health or behavioral concerns, but he did have a laceration 2 years previously that needed stitches which the mother described as “not going well.” The child was obviously distressed by the vaccine incident and expressed remorse for the extreme acting out. He said, “I know it’s okay but I just couldn’t stop.” The family history was positive for an aunt with anxiety and depression who was treated with medication and therapy.

The pertinent physical exam revealed a child who was hyperalert. He was very concerned when the doctor cleaned his stethoscope with an alcohol pad, and had to be shown several times that the physician had nothing in his hands so he would move to the examination table. Otherwise he was a very cooperative, pleasant child who could be distracted during the examination which was also normal.

The diagnosis of a child with an extreme needle fear or possible phobia was made. The physician described the natural history where needle fears usually decrease with age. However, the mother and the boy expressed concern about escalating fears, and the need for additional vaccines soon. The pediatrician recommended a therapist to teach additional coping skills and if needed additional therapies, in addition to briefly discussing procedural pain options for the future.

Discussion
There are products that are valued highly because of their design and function are elegantly suited for their use. Books would be one example and the hypodermic needle is another. Medical hypodermic needles are used for accessing bodily spaces (e.g. vascular, peritoneal, subarachnoid, dermal, etc.), obtaining specimens (both solid tissue and liquid) and to deliver drugs, biologicals, fluids and other treatments to patients. Medical procedures involving some type of needle are the most common procedures taught to health care providers. A brief history of syringes and hypodermic needles can be found here. A variety of medical artifacts and online books can be found in the Wellcome Collection here.

The major con of hypodermic needles is pain. Physiological pain from the actual needle, the drug delivered or associated procedure. Psychological pain from anticipation or previous experience. Pain management can be divided into 5Ps:

  • Physical – provide techniques known to decrease pain such as application of cold or vibration near the injection site, or anesthetic skin cream prior to venipuncture
  • Pharmacological – adding a buffering or anesthetic solution to the drug to decrease burning sensation
  • Procedural – provide all procedures simultaneously if possible such as coordinating multiple surgeries and providing vaccination while under anesthesia
  • Psychological – provide education or distraction before, during and after the procedure, provide emotional support with a family member or favorite toy
  • Process – decrease drug delivery rate, use smallest needles possible including microneedles, or a non-needle option (e.g. jet injector, mucosal or oral administration)

Learning Point
Fears are unpleasant emotions with behavioral, cognitive and psychological components that are in response to a recognized source. They are often protective and keep people safe within their environment. These can but generally do not cause persistent problems with functioning. Phobias have a persistent dread and preoccupation with the source. They cause persistent problems with functioning.

Needle fear occurs almost 100% in young children and decreases with age. In a systematic review, they decreased to ~30% by age 20. Overall rate of fear of needles in the adult population is ~20% with phobia felt to be around 3.5-10%. While fear and phobia does decrease, the age of onset is thought to be between 5-10 years for adults with needle fear and phobia. Patients (~80%) with phobia have a first-degree relative with phobia. Needle fear and phobia prevalence is greater in girls and women than in boys and men and this was consistent regardless of country origin. Patients who require injections because of their disease have high rates of needle fear and phobia (i.e. cancer treatment 15-84%, diabetes 1-42% and routine dental procedures (2-91%).

Some people may also have fears which are related to the general procedure process rathen than the specific needle itself and this causes problems in needle-related settings. Examples include anticipation of possible hypoglycemia with insulin injection or worry about vasovagal syncope recurrence after a previous event with a needle-based procedure. Some people fear the need to be restrained too for suturing or a similar procedure.

Needle fear and phobia can cause patients to put-off or decline care especially vaccination preventative care. Even health care workers are not immune with a systematic analysis finding 27% of hospital workers and 18% of long-term care facility workers avoiding influenza vaccine because of this fear.

Treatment for excessive fear and phobia can include short acting benzodiazepines or nitrous oxide, education, coaching, relaxation techniques, distraction, hypnosis and exposure-based interventions.

Questions for Further Discussion
1. What is dry needling and how is it used? A review can be found here
2. How does acupuncture work?
3. What techniques do you employ in your setting to decrease needle fears?

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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Phobias and Anxiety.

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.

McMurtry CM, Pillai Riddell R, Taddio A, et al. Far From “Just a Poke.”” Clin J Pain. 2015;31(Suppl 10):S3-S11. doi:10.1097/AJP.0000000000000272

Luo L, Lai C. Needle Phobia: A Vasovagal Response During Acupuncture. AFP. 2016;94(12):1002-1002.

Susam V, Friedel M, Basile P, Ferri P, Bonetti L. Efficacy of the Buzzy System for pain relief during venipuncture in children: a randomized controlled trial. Acta Biomed. 2018;89(Suppl 6):6-16. doi:10.23750/abm.v89i6-S.7378

Orenius T, LicPsych, Saila H, Mikola K, Ristolainen L. Fear of Injections and Needle Phobia Among Children and Adolescents: An Overview of Psychological, Behavioral, and Contextual Factors. SAGE Open Nurs. 2018;4:2377960818759442. doi:10.1177/2377960818759442

McLenon J, Rogers MAM. The fear of needles: A systematic review and meta-analysis. J Adv Nurs. 2019;75(1):30-42. doi:10.1111/jan.13818

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

Corns, Calluses and Properly Fitting Children’s Shoes

Patient Presentation
A 6-year-old male came to clinic for his health supervision visit. His mother had no concerns but had noticed some intermittent mild limping. He denied any problems and his mother denied any fever, muscle aches, back pain, or trauma. She thought it had been occurring for a few weeks or “since the spring started.” The past medical history was negative for any trauma, orthopaedics or neuromuscular problems. The review of systems was negative.

The pertinent physical exam showed a healthy-appearing boy with normal vital signs and growth parameters in the 75-90%. His musculoskeletal examination was normal except that he had calluses on the lateral 5th metatarsalphalyngeal bones of both feet and along the edge of the heels.

The diagnosis of a healthy male was made. The pediatrician looked at the child’s shoes and noted that they seemed worn. When placing them against his feet they were obviously too small. His mother said that they would look into getting new shoes right away. “I’m also going to check his soccer shoes. I bet those are small too,” she said.

Discussion
Probably the most common foot problem is foot pain or skin problems. This can be due to chronic and acute trauma, mobility issues, normal development, activities and footwear.

Common foot problems include:

  • Acute trauma is probably one of the most common reason patients and families seek care for is pain after acute trauma. Children prior to full puberty with acute trauma may have a growth plate fractures or Salter-Harris fractures which can be reviewed here.
  • Apophysitis and tendonitis are common overuse injuries where there is irritation of the tendon and its insertion points. Chronic overuse can also lead to fracture. A review can be found here.
  • Hallux valgus or bunion is caused mainly by restrictive footwear. It is very common in patients with Down Syndrome. A review can be found here.
  • Plantar fasciitis is pain in the plantar area with its dense connective tissues due to overuse. Stretching exercises, a heel cup, supportive shoes and nighttime splinting can help with the pain. It can be a slow heaing process though. A review can be found here.
  • Pes Planus or flat foot is a common presentation in children and is the absent or diminished longitudinal medial foot arch. Flexible flat feet occur in children < 6 years and should be painless. History of pain makes this diagnosis less likely. A review can be found here
  • Plantar warts caused by viruses can be irritating and quite painful for patients. There are numerous treatments including debridement, local acid treatments or cryotherapy as common mainstays. There are potential complications that need to be considered though. A review of treatments can be found here. A review of potential cryotherapy treatment problems can be found here.
  • Tinea pedis and onychomycosis are common skin and nail infections due to exposure to humid environments and exposure to fungal infections, including that of shoes themselves. Treatment is increased air exposure and topical or oral anti-fungal medications. Prevention measures can be reviewed here.
  • Immersion injury – most people are well aware of experiencing wrinkled skin after being exposed to water due to hyperhydration of the plantar stratum corneum. Immersion injuries occur after extended or repeated exposure to water in warm or cold environments. Treatment is mainly preventative but severe problems can occur. A review can be found here.

Learning Point
Corns and calluses are other common foot problems. Both are thickened skin caused by friction or pressure. It is the skin’s protective mechanism to protect the underlying tissues. They are usually due to increased activity, ill-fitting shoes or anatomic foot problems. Calluses are not painful usually unless they themselves are injured (e.g. cracked skin) and are located in places of high movement and pressure (such as hands and feet). Corns are smaller than calluses. They have a hardened center and can be painful when palpated. They are located in non-pressure areas such as between toes.

Treatment includes:

  • Decreasing pressure or friction. Using appropriate footwear along with socks can decrease the friction. Socks can also wick moisture away.
  • Padding of the area to allow it to heal
  • Over the counter or customized orthotics and shoes to decrease pressure and friction
  • Salicylic acid, urea and similar products can soften and diminish the thickened tissue
  • Scalpel debridement is also sometimes used

Shoes are judged by their form, fit and function with fit usually governing how they function. Therefore fit is very important. In a systemic review, it was estimated that 63-72% of people had improperly fitted shoes. A study of children with Down Syndrome found shoes that were too narrow.

Proper footwear should:

  • Be usable right out of the box. It should not need to be “broken in.”
  • Shoes should be fitted when feet are the largest which is at the end of the day. They should be fitted while weight-bearing on both feet. This allows the foot to spread. Walking or running can also cause the foot to spread and shoewear should be tested doing these activities as well.
  • Shoes should fit snugly and not slip off. The heel needs to be able to move but should fit snugly
  • Length should be ~ 10 mm from the longest toe for general shoes with athletic shoes up to 1 inch. Width should allow for adequate space across the entire ball of the foot (usually < 10 mm extra space).
  • If orthotics or other appliances are used, they should be in place while fitting shoes as they will change the fit.
  • Specialty shoes usually need activity/occupational specialists to fit such shoes. For example, pointe shoes for ballet dancers or skates for skaters. A review can be found here.

Foot professionals may characterize general foot and toe morphology as Egyptian (first toe is the longest), Greek (second toe is the longest), and square (first and second toes are of equal length). These can be important as most children’s shoes are developed on adult foot templates which are developed usually from square toed morphology. Children’s feet grow faster than most parents realize and they need new shoes often. Toddler and young preschoolers may need new shoes 3-4 times/year, those 4-6 years about 2 times per year and those 6-12 years about 3 times per year. Adolescents may need them more frequently depending on age of puberty.

Questions for Further Discussion
1. What are the most common foot problems in your clinic?
2. What are your favorite treatment choices for corns and calluses?
3. What causes limping? A review can be found here

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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Corns and Calluses and Foot Injuries and 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.

Buldt AK, Menz HB. Incorrectly fitted footwear, foot pain and foot disorders: a systematic search and narrative review of the literature. J Foot Ankle Res. 2018;11:43. doi:10.1186/s13047-018-0284-z

Becker BA, Childress M. Common Foot Problems: Over-the-Counter Treatments and Home Care. AFP. 2018;98(5):298-303.

Gonzalez Elena ML, Cordoba-Fernandez A. Footwear fit in schoolchildren of southern Spain: a population study. BMC Musculoskelet Disord. 2019;20:208. doi:10.1186/s12891-019-2591-3

Corns and Calluses Cedars-Sinai. Accessed November 23, 2021. https://www.cedars-sinai.org/health-library/articles.html

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