Common Pediatric Diagnoses

Not a condition in and of itself, arthrogryposis is instead a component of other conditions and is used to describe the occurrence of congenital contractures in joints of the body.  It can be caused by impaired in utero movement for prolonged periods of time, typically more than three weeks. 

The two types of arthrogryposis are amyoplasia, which occurs in sporadic cases and consists of multiple symmetric contractures in the limbs, and distal arthogryposis, which if caused by autosomal dominant or x-linked mutations and features involved hands and feet but not usually any large joints.  Arthrogryposis is generally corrected through casting, orthotics, or surgery and is not progressive unless the underlying cause is progressive.

References and Further Reading:

Arthrogryposis. (n.d.). Retrieved November 07, 2020 from https://www.seattlechildrens.org/conditions/arthrogryposis/

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Autism is a spectrum disorder, meaning that it can manifest itself in a range of severity from mild to severe.  Asperger’s, originally classified as a separate diagnosis, is now classified as a form of Autism.  Symptoms of Autism range from social interaction issues to sensory processing concerns to verbal communication deficits.  In addition, comorbidities can occur including intellectual disabilities, obsessive compulsive disorder, attention deficit disorder, Pica, depression, anxiety, bipolar disorder, seizures, enuresis or encopresis, gastro-intestinal problems, aggression or self-injury, food selectivity, sleep disturbance, and obesity. Autism Spectrum Disorders (ASD) occur more frequently in males than in females, and the prevalence has been increasing significantly in recent decades.  The actual cause of the disorder is unknown.  Some parents will experiment with various diets in an attempt to control the symptoms of the disorder, with one of the most common diets being a gluten free diet. Common treatment for ASD includes OT, PT, and Speech to address the various difficulties that the child faces.  Applied Behavior Analysis has also proven beneficial for controlling the negative behaviors of many children with ASD. ASD is a lifelong disorder, and individuals with the disorder will often have difficulties that may improve with time, but will still largely persist throughout the lifetime.  Some individuals may be able to live independently as adults, while others will always require the supervision and assistance of others.

References and Further Reading:

Lane, S. & Bundy, A. (2012). Kids can be kids: A childhood occupations approach. Philadelphia, PA: F.A. Davis.

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Brachial plexus injuries are injuries to the nerves that innervate the upper extremity. This injury can occur at any age and be caused by a variety of factors. In children, brachial plexus injuries can occur during birth as the baby passes through the birth canal or after birth as a result of tearing, stretching, or compression on the nerves from a traumatic injury or a tumor. Symptoms can range from mild weakness and numbness to more severe symptoms with complete loss of function and sensation. Some brachial plexus injuries will resolve on their own, but others may require surgery. Occupational therapy intervention often focuses on maintaining range of motion and preventing contractures while innervation is reduced as well as developing compensatory strategies to maintain function until the healing process is complete and function is restored.

References and Further Reading:

The Children’s Hospital of Philadelphia. (2014, May 05). Brachial Plexus and Peripheral Nerve Injuries. Retrieved November 07, 2020, from https://www.chop.edu/conditions-diseases/brachial-plexus-and-peripheral-nerve-injuries?insitesid=1056

Mayo Clinic. (2020, April 15). Brachial plexus injury. Retrieved November 07, 2020, from https://www.mayoclinic.org/diseases-conditions/brachial-plexus-injury/diagnosis-treatment/drc-20350241

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Burns can occur at any age and be caused by a variety of factors from electrical current to caustic chemicals to high temperatures.  They are classified based on how deeply the burn penetrated into the skin and underlying tissues with first degree burns being the least severe and third degree burns being the most severe.  Depending on the severity of the damage, surgical repair such as skin grafting may be required.  Scarring during recovery from a burn can cause loss of mobility, so rehabilitation often begins immediately after medical stabilization.  Treatment can include open wound care such as hydrotherapy and wound cleansing, positioning to prevent loss of range of motion, scar and edema management, and exercise.

References and Further Reading:

Mayo Clinic. (2020, July 28). Burns. Retrieved November 07, 2020, from https://www.mayoclinic.org/diseases-conditions/brachial-plexus-injury/diagnosis-treatment/drc-20350241

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Cerebral Palsy Syndromes (CP) occur in roughly .2% of the population and are most prevalent in children born prematurely.  Causes of CP vary and primarily occur before, during or immediately after birth.  A diagnosis of CP is generally made with an MRI and medical history at or around age 2, and initial symptoms are typically related to motor development or muscle tone.  Spastic syndromes are by far the most common, followed by athetoid or dyskinetic syndromes, ataxic syndromes, and mixed syndromes.  Intellectual disabilities can be comorbid due to the cause of injury, however, they are not a component of CP itself.  Other comorbid diagnoses include seizures, failure to thrive, delayed growth and development, hearing impairments, speech and language deficits, vision deficits, scoliosis or kyphosis or lordosis, drooling, incontinence, and hypo and hyper-responsivities.  Treatment for CP includes physical and occupational therapy, braces and related interventions, surgery, botulinum toxin injections, medications, and assistive devices.

References and Further Reading:

Coker-Bolt, P. & DeLuca, S. (2013). Pediatric constraint-induced movement therapy (CIMT): A guide for occupational therapy and healthcare clinicians, researchers, and educators. Bethesda, MD: AOTA Press.

Lane, S. & Bundy, A. (2012). Kids can be kids: A childhood occupations approach. Philadelphia, PA: F.A. Davis.

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Congenital hand deformities are malformations of the fingers and hand that are present when a child is born. They may include extra digits or missing digits, digits that are either partially or fully connected to one another, shortened or enlarged digits, or missing muscles or bones. Congenital hand deformities interfere with normal hand function and can make everyday activities more difficult for the child. In some cases, surgery may be able to resolve or improve deformities. Occupational therapy intervention focuses on maximizing function and may involve use of prosthetics or splinting, strengthening and habilitation, and education in compensatory strategies to maximize function.

References and Further Reading:

Congenital Hand Deformities. (n.d.). Retrieved November 07, 2020, from https://www.hopkinsmedicine.org/health/conditions-and-diseases/hand-conditions/congenital-hand-deformities

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Developmental delay occurs when a child is not meeting normal developmental milestones by the expected age. This delay may be caused by a variety of factors including genetic disorders, environmental exposures before or after birth, infections before or after birth, low birthweight, birth complications, or other factors. When not addressed early, developmental delays may lead to further and more significant delays that could more significantly impact function throughout life. Occupational therapy intervention for developmental delays often focuses on identifying and working towards delayed milestones and educating parents and caregivers to assist the child in mastering skills and progressing with the developmental process.

References and Further Reading:

Facts About Developmental Disabilities. (2019, September 26). Retrieved November 07, 2020, from https://www.cdc.gov/ncbddd/developmentaldisabilities/facts.html

Lane, S. & Bundy, A. (2012). Kids can be kids: A childhood occupations approach. Philadelphia, PA: F.A. Davis.

Down syndrome is a genetic condition linked to abnormalities in chromosome 21. It may be diagnosed either before birth through various tests or when signs and symptoms such as low muscle tone and facial features are noted at birth. In addition to affecting muscle tone and facial features, Down syndrome may also cause intellectual disabilities, a small head, and shortened height. Individuals with Down syndrome also tend to have a shorter lifespan than those without. Occupational therapy intervention for Down syndrome often focuses on addressing deficits related to the disease manifestation and assisting children in progressing with developmental milestones in order to maximize function.

References and Further Reading:

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

What is Down Syndrome?: National Down Syndrome Society. (n.d.). Retrieved November 07, 2020, from https://www.ndss.org/about-down-syndrome/down-syndrome/

Encephalitis is inflammation of the brain and meningitis is inflammation of the meninges of the brain and spinal cord. Both may be caused by a variety of infections including viruses, bacteria, and even fungus or parasites. Depending on the severity of the illness, outcomes may range from a complete recovery to lasting symptoms or even death. Residual symptoms are neurological in nature and may include cognitive, emotional, or physical deficits. Occupational therapy intervention focuses on addressing the deficits left after the disease process is over and may include rehabilitation of lost function or compensation to maximize functional independence.

References and Further Reading:

Encephalitis Society. (n.d.). After-effects of encephalitis. Retrieved November 07, 2020, from https://www.encephalitis.info/pages/category/after-effects-of-encephalitis

Meningitis and Encephalitis Information Page. (n.d.). Retrieved November 07, 2020, from https://www.ninds.nih.gov/Disorders/All-Disorders/Meningitis-and-Encephalitis-Information-Page

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Food allergies are reactions by the immune system to the proteins in various foods.  These reactions can range from nasal congestion to rashes to anaphylactic shock.  The eight most common food allergies are milk, egg, peanut, tree nut, fish, shellfish, wheat, and soy, although children may also have allergies to other foods.  Children should avoid eating all foods that they are allergic to and in some cases should even avoid smelling or touching those foods.  Generally children with severe allergies will be prescribed an epi-pen for use in the event of anaphylactic shock.

References and Further Reading:

Food Allergy. (2020, September 28). Retrieved November 07, 2020, from https://medlineplus.gov/foodallergy.html

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Fractures are breaks in bone. They can range in severity depending upon whether the bone breaks completely, how many breaks are present, and whether the broken bone pokes through the skin. In some cases, a fracture may require surgery for either external or internal fixation, but in others a splint or cast may be sufficient to stabilize the bone until it heals. Occupational therapists may assist a patient in recovery from a fracture by fabricating orthoses for stabilization during the healing process or by assisting with restoration of function while the bone heals or after removal of a cast, orthosis, or external fixator.

References and Further Reading:

Fractures (Broken Bones) – OrthoInfo – AAOS. (n.d.). Retrieved November 07, 2020, from https://orthoinfo.aaos.org/en/diseases–conditions/fractures-broken-bones/

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Fragile X syndrome is an inherited form of intellectual disability. It is more prevalent in males than females. Symptoms can be behavioral, cognitive, and physical, and may resemble autism. Other forms of Fragile X disorders can occur later in life and cause memory, balance and tremor issues or infertility and premature menopause. Occupational therapy intervention for Fragile X syndrome focuses on addressing the deficits caused by the disease and assisting children in maximizing function and independence.

Resources and Further Reading:

Fragile X 101: The Three Fragile X Disorders. (2020, July 29). Retrieved November 08, 2020, from https://fragilex.org/understanding-fragile-x/fragile-x-101/

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 08, 2020 from http://www.merckmanuals.com/professional/

GERD, or Gastroesophageal Reflux Disease, is reflux of the stomach contents and can occur at any age, including in infants and children. When GERD occurs in pediatrics it can interfere with feeding and result in increased fussiness that affects sleep and overall quality of life. Occupational therapy intervention is often directed towards the feeding issues with pediatric feeding interventions, family education, positioning, and other strategies to improve the eating process and overall quality of life.

References and Further Reading:

GERD (Gastroesophageal Reflux Disease) in Children. (n.d.). Retrieved November 08, 2020, from https://www.hopkinsmedicine.org/health/conditions-and-diseases/gerd-gastroesophageal-reflux-disease-in-children

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 08, 2020 from http://www.merckmanuals.com/professional/

Limb deficiencies are partial or completely missing limbs. They may be congenital, in which the limb is completely missing or malformed at birth, or may be caused by amputation of part or all of the limb at some point after birth. Regardless of when they occur, limb deficiencies can have a major impact on function and independence and can interfere with many daily activities. Occupational therapy interventions focus on either developing or restoring function (depending upon whether the deficiency occurred before or after birth and the development of fine and gross motor skills), and may include the use of prosthetics or splinting, strengthening of the residual limb or unaffected limbs, and education in compensatory strategies to maximize function.

References and Further Reading:

Comprehensive Limb Difference Program. (n.d.). Retrieved November 07, 2020, from https://www.choa.org/medical-services/orthopaedics/orthotics-and-prosthetics/limb-deficiency

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Muscular dystrophy is a genetic disorder that results in progressive muscle weakness. There are several types of muscular dystrophy, but the most common type, Duchenne type, is more common in boys. Other types of muscular dystrophy can be present in girls or may not appear until adulthood. Symptoms can range in severity and often include falls and clumsiness, progressive difficulty with ambulation, learning disabilities, and slow growth. Many children with muscular dystrophy will ultimately require a wheelchair for mobility and have a short life expectancy. Occupational therapy intervention focuses on maximizing independence and maintaining function and may include wheelchair seating and positioning, adaptive equipment education, family education, and compensatory strategies as the disease progresses. Muscle weakness can also result in contractures and frequent falls can result in fractures, both of which may benefit from splinting.

References and Further Reading:

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Muscular dystrophy. (2020, January 31). Retrieved November 08, 2020, from https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388

Prader-Willi syndrome is a genetic disorder that seems to result in dysfunction of the hypothalamus. Symptoms range in severity and can include low muscle tone in infants and young children, low metabolic rate and decreased sensation of satiety that can cause obesity, learning disabilities, distinctive facial features, and delayed development of reproductive organs resulting in infertility. Occupational therapy intervention focuses on addressing deficits to maximize independence and function.

References and Further Reading:

Prader-Willi syndrome: MedlinePlus Genetics. (2020, September 08). Retrieved November 08, 2020, from https://medlineplus.gov/genetics/condition/prader-willi-syndrome/

What Is Prader-Willi Syndrome? – Prader-Willi Syndrome Association. (2020, June 20). Retrieved November 08, 2020, from https://www.pwsausa.org/what-is-prader-willi-syndrome/

Sensory processing disorder is a diagnosis based on the sensory integration theories of occupational therapist A. Jean Ayres. Sensory input from our environment is processed by eight different sensory systems: visual, auditory, tactile, olfactory, gustatory, vestibular, proprioceptive, and interoceptive. Children with sensory processing disorder have difficulty with the perception of one or more types of this sensory input, often resulting in behavioral issues, developmental delays, picky eating, sleep difficulties, tactile sensitivities, and other issues, as they struggle to process the sensory input that they are receiving from their environment. Occupational therapy treatment often focuses on introducing children to a variety of new sensations in a fun and engaging way, in order to allow the child to experience those sensations without negative consequences that may deter further exploration. It is important to note that the American Academy of Pediatrics released a position paper in 2012 advising physicians against the use of Sensory Processing Disorder as a diagnosis in and of itself and to instead consider the possibility of sensory processing issues being a component of other disorders.

References and Further Reading:

Lane, S. & Bundy, A. (2012). Kids can be kids: A childhood occupations approach. Philadelphia, PA: F.A. Davis.

Understanding Sensory Processing Disorder. (n.d.). Retrieved November 07, 2020, from https://www.spdstar.org/basic/understanding-sensory-processing-disorder

Zimmer, M., & Desch, L. (2012). Sensory Integration Therapies for Children With Developmental and Behavioral Disorders. Pediatrics, 129(6), 1186-1189. doi:10.1542/peds.2012-0876

Shaken Baby syndrome is a form of child abuse that occurs when a child is violently shaken and results in brain damage or even death. When a child is shaken, the brain knocks within the skull, causing injury and damage as it strikes against the inside of the skull bones. The resulting damage can have long term detrimental effects on many aspects of a child’s function including cognition, social and behavioral factors, and hemiplegia. Occupational therapy intervention focuses on addressing the deficits caused by the injury in order to maximize the child’s function and improve overall quality of life.

References and Further Reading:

Laurent-Vannier A, Toure H, Vieux E, Brugel DG, Chevignard M. Long-term outcome of the shaken baby syndrome and medicolegal consequences: a case report. Ann Phys Rehabil Med. 2009 Jun;52(5):436-47. English, French. doi: 10.1016/j.rehab.2009.03.001. Epub 2009 Apr 15. PMID: 19443287.

Shaken baby syndrome. (2017, October 28). Retrieved November 08, 2020, from https://www.mayoclinic.org/diseases-conditions/shaken-baby-syndrome/symptoms-causes/syc-20366619

Spina Bifida is a neurological disorder where portions of the spinal cord protrude outside of the spinal column.  In occult spina bifida, the protrusion is masked by the overlying skin, but in spina bifida cystica the meninges and sometimes even the spinal cord actually protrude out of the back.  The severity of the disorder and its prognosis is related to the degree of exposure of the spinal cord.  The cause of spina bifida is unknown, however, decreased dietary folate of the mother during pregnancy is an identified risk factor.

References and Further Reading:

Merck Manual.  (2020). The Merck Manual Online.  Retrieved November 07, 2020 from http://www.merckmanuals.com/professional/

Spina Bifida Association. (2020). Spina Bifida Association. Retrieved November 07, 2020 from http://www.spinabifidaassociation.org/