Spinal Muscular Atrophy Type 2

Spinal Muscular Atrophy Type 2

Spinal Muscular Atrophy Type 2

reply to the following discussion with one reference. Participate in the discussion by asking a question, providing a statement of clarification, providing a point of view with a rationale, challenging an aspect of the discussion, or indicating a relationship between two or more lines of reasoning in the discussion. Cite resources in your responses to other classmates.

MB Discussion:

 What is the most likely diagnosis? Why?

The most likely diagnosis for the patient is cerebral palsy. It is a group of disorders, which affect muscle tone, posture, and growth (Vitrikas et al., 2020). It usually develops due to the damage caused to developing and immature brain usually before birth. Warning signs of cerebral palsy start appearing during infancy (Patel et al., 2020). General complications associated with cerebral palsy include a combination of some of the following indicators. These include impaired movement related to inflated reflexes, spasticity or floppiness of the trunk and limbs, unusual posture, uncontrolled movements, and unstable gait (Vitrikas et al., 2020). The symptoms of cerebral palsy reported in the child included dragging legs while crawling, delayed accomplishment of motor skills milestones, and knee crossing when held by the axillae (Patel et al., 2020). Therefore, cerebral palsy is considered the most likely diagnosis.

What would be three differentials in this case? Why?

Spinal Muscular Atrophy Type 2 (SMA2) (G12.1)

This is a genetic neuromuscular disorder, which affects the nerve cells, which control voluntary muscles (Mercuri et al., 2018). When unidentified, muscle weakness advances among babies with SMA2 during six months to one year. Babies suffering from SMA2 may develop the ability to sit independently. However, they are unable to stand or walk independently. Such children may also experience feeding and breathing issues. The significant indication of SMA2 is poor muscle tone, which is identified at the time of birth or within the initial few months (Ross & Kwon, 2019).

Children affected by SMA2 may be able to initially reach some motor development milestones slowly. Generally, the highest motor development milestone reached by children with SMA2 is the ability to sit without support. Other warning signs of SMA2 in babies include tremors in fingers and skeletal abnormalities (Mercuri et al., 2018). The child was identified to be unable to roll over or sit at her six months wellness visit. She has not started pulling herself to stand at 11 months. Therefore, SMA2 is considered a possible diagnosis.

Rett Syndrome Stage 1 (F84. 2)

This is an uncommon genetic developmental and neurological disorder, which impacts how the brain develops (Corchón et al., 2018). It causes a gradual loss of speech and motor skills. This disorder mainly affects girls. In most cases of Rett syndrome, children appear to regularly develop for the initial six to 18 months of age and start losing skills they previously had. These may include the ability to crawl, use their hands, communicate, and walk (Azad, 2021).

Stage 1 can start at any time between the age of six months and 18 months and lasts for a few months or years. During this stage, the warning signs are subtle and can be conveniently disregarded. Usual signs during stage 1 include less eye contact and gradual loss of interest in toys. They may also exhibit delayed sitting or crawling (Corchón et al., 2018). It is considered a differential diagnosis considering the risk factors of Rett syndrome such as female child, age between six and 18 months, and identified signs and symptoms.

Spina Bifida Occulta (Q76. 0)

This refers to a birth defect when the spine and spinal cord do not develop properly. It is a form of neural tube defect (Graham, 2021). Spina bifida occulta is the most common and mildest form of a neural tube defect. It causes a small gap or separation in single or more spinal bones. Walking and mobility problems are possible complications associated with spina bifida. This occurs as nerves, which control the leg muscles may work properly below the location of spina bifida defect. This may cause weakness of the leg muscles and paralysis in some cases (Graham, 2021). Considering the signs and symptoms identified in the child, it is considered a differential diagnosis.

What developmental milestones are expected at this age?

The anticipated development milestones accomplished by an 11-month-old child include crawling, standing up without support, taking steps or walking, and pointing towards or grabbing items they want.

They may ;

also be able to hold finger foods and feed themselves.

babble or imitate words and wave bye-bye.

start saying simple words such as mama and dada.

also begin to exhibit personality traits, understand simple one-word requests or phrases, and stack play items. In addition, they develop preferences for textures and tastes and show curiosity and explore how things work (Burns et al., 2019).

What do you believe is your best course of action/treatment plan for this appointment? Why?

Currently, the information available about the patient is compliant with a possible delay in reaching motor developmental milestones. This would require performing three possible screenings. These may include Ages & Stages Questionnaires (ASQ), the Battelle Developmental Inventory, edition 2 (BDI-2), and the Child Development Inventories (CDI). The ASQ allows assessing developmental milestones. The BDI-2 allows assessing development milestones and personal, social, adaptive, motor, communication, and cognitive abilities or delays. Finally, the CDI would measure motor and fine motor skills, language and comprehension, and social skills (Burns et al., 2019).

magnetic resonance

The best course of action would further include ordering diagnostic tests, including magnetic resonance imaging of the brain. This would allow us to assess the severity of the most likely diagnosis of cerebral palsy and identify the cause behind its occurrence in an otherwise healthy, full-term child with no history of trauma. An additional test to identify the cause of cerebral palsy would include metabolic and genetic testing, electroencephalography (Vitrikas et al., 2020). Identifying the cause allows determining the anticipated life quality of the patient. This allows the parents to prepare for the required adjustments that need to be made.

The provider would consult with and make referrals to speech, physical, and occupational therapists, social workers to guide parents regarding community resources, orthopedists to prevent curvatures, contractors, hip dislocation, and child neurologists for further assessment (Patel et al., 2020). These will be the members of the multispecialty team required for the best possible care of the patient.

References

Azad, D. O. (2021). Rett syndrome. In F. R. Volkmar, Encyclopedia of autism spectrum disorders (pp. 3959-3968). Springer International Publishing. https://doi.org/10.1007/978-3-319-91280-6.

Burns, C., Dunn, A., Brady, M., Starr, N., & Blosser, C. (2019). Burns’ pediatric primary care (7th ed.). Saunders.

Corchón, S., López, I. C., & Cauli, O. (2018). Quality of life related to clinical features in patients with Rett syndrome and their parents: A systematic review. Metabolic Brain Disease, 33(6), 1801-1810. https://doi.org/10.1007/s11011-018-0316-1.

Graham, P. (2021). Spina bifida occulta. Orthopaedic Nursing, 40(4), 259-261. https://doi.org/10.1097/NOR.0000000000000775.

Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., & Sidorkiewicz, A. S. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), 103-115. https://doi.org/10.1016/j.nmd.2017.11.005.

Patel, D. R., Neelakantan, M., Pandher, K., & Merrick, J. (2020). Cerebral palsy in children: A clinical overview. Translational Pediatrics, 9(1), 125–135. https://doi.org/10.21037%2Ftp.2020.01.01.

Ross, L. F., & Kwon, J. M. (2019). Spinal muscular atrophy: Past, present, and future. Neoreviews, 20(8), 437-451. https://doi.org/10.1542/neo.20-8-e437.

Vitrikas, K., Dalton, H., & Breish, D. (2020). Cerebral palsy: An overview. American Family Physician, 101(4), 213-220. https://www.aafp.org/afp/2020/0215/p213.html.

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