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Article Evaluation: Asymmetrical Tonic neck Reflex

This article about the asymmetrical tonic neck reflex provided as basic overview containing accurate information about the topic and was unbiased. However, there was some information that was distracting and off topic. The author focused a lot on the tonic labyrinthine reflex and I do not believe that information was relevant to the topic of the article. There was also a lot of information that was missing such as a timeframe to when the reflex is first observed and most importantly why the reflex is important and how does it benefit the infant! This was a vital detail that the article was missing. The article mentioned negative impacts of an abnormal reflex, but nothing was mentioned about what to do when an abnormal reflex is seen. Could the child benefit from therapy? The author briefly touched on the subject that the reflex can appear differently in children with cerebral palsy and it would have been beneficial to include additional diagnoses to compare how the reflex appears and develops. Also, the format of the article was hard to read as it was one big paragraph and did not have any headings to break it up. Lastly, this article was very poorly sourced. There are no in-text citations throughout the entire article and there is only one reference listed. More sources are needed to provide an accurate description of the reflex, its uses, and the implications that it has on the infant population. On the talk page the article is rated as stub-class on the quality scale, which indicates a very basic description of the topic along with content that is not high-quality.

Planned Contribution to Rett Syndrome Article

• Additional medical references/peer-reviewed journals need to be added to the signs and symptoms section
• Additional information and clarification could also be added to the signs and symptoms section to make it read smoother
• A section on Diagnosis needs to be added including how is it diagnosed, are there diagnostic criteria from the DSM-5, at what age is it most commonly diagnosed, which medical professionals are involved in the diagnosis process. Peer-reviewed references need to be included.
• The treatment section also needs additional information such as is physical therapy appropriate in children with Rett Syndrome and how can it be beneficial?

Diagnosis

Rett Syndrome diagnosis involves close observation of the child's growth and development to observe any abnormalities in regards to developmental milestones. A diagnosis of Rett Syndrome is considered when decreased head growth is observed. Because Rett Syndrome is very rare, other conditions with similar symptoms must first be ruled out. These conditions include autism, cerebral palsy, hearing or vision problems, metabolic disorders, degenerative disorders, central nervous system disorders caused by trauma or infection, or prenatal brain damage.

There is a certain criteria that must be met to diagnose a child with Rett Syndrome. A blood test can be conducted to rule in or rule out the presence of the MECP2 mutation that causes Rett Syndrome, however, this mutation is present in other conditions as well. A child with Rett Syndrome is often misdiagnosed as having autism, cerebral palsy, or another form of developmental delay. A positive test for the MECP2 mutation is not enough to make a diagnosis. For a typical or classic diagnosis, all four criteria for ruling in a diagnosis must be met, as well as the two criteria for ruling out a diagnosis. A period of symptom regression followed by recovery or symptom stabilization must also occur. Supportive criteria may also be present, but is not required for diagnosis. For an atypical or variant diagnosis, at least two of the four criteria for ruling in the diagnosis must be met, as well as five of the eleven supportive criteria. A period of symptom regression followed by recovery or symptom stabilization must also occur.

Criteria for Ruling In a Diagnosis

• Decreased or loss of use of fine motor skills
• Decreased or loss of verbal speech
• Abnormalities during gait
• Repetitive hand movements such as wringing/squeezing or clapping/tapping

Criteria for Ruling Out a Diagnosis

• Traumatic brain injury, neurometabolic disease, or severe infection that may better explain symptoms
• Abnormal psychomotor development during the 6 months of life

Supportive Criteria

• Breathing disturbances when awake
• Bruxism while awake
• Impaired sleep pattern
• Abnormal muscle tone
• Peripheral vasomotor disturbances
• Scoliosis/kyphosis
• Growth retardation
• Small cold hands and feet
• Inappropriate laughing/screaming spells
• Diminished response to pain
• Intense eye communication (eye pointing)

Further Testing

Further testing may be requested based on specific signs and symptoms to evaluate the severity of the disease. Additional tests that may be conducted include blood tests, urine tests, imaging such as computerized tomography (CT) or magnetic resonance imaging (MRI), hearing tests, vision tests, or brain activity tests. A genetic test or DNA analysis may also be ordered to confirm the diagnosis. This information is used to analyzed the possible causes and the severity of the disease.

Signs and Symptoms Editing

Infants with Rett Syndrome are usually born after a normal pregnancy and delivery. These infants will develop normally and meet motor milestones until about 6 months of age. Signs and symptoms will start to appear around 6 months and will become the most pronounced around 12-18 months of age. The symptoms will appear suddenly, over a few weeks to months. A period of developmental stagnation is then observed, followed by a period of developmental regression where language and motor milestones regress, purposeful hand use is lost, and acquired deceleration in the rate of head growth (resulting in microcephaly in some) is seen.

The infant with Rett syndrome often avoids detection until 6–18 months, owing to a relatively normal appearance and some developmental progress. However, closer scrutiny reveals disturbance of the normal spontaneous limb and body movements that are thought to be regulated in the brainstem. The brief period of developmental progress is followed by stagnation and regression of previously acquired skills. During regression, some features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome as autism.

Signs may stabilize for many decades, particularly for interaction and cognitive function such as making choices. Asocial behavior may change to highly social behavior. Motor functions may slow as rigidity and dystonia appear. Seizures may be problematic, with a wide range of severity. Scoliosis occurs in most, and may require corrective surgery. Those who remain ambulatory tend to have less progression of scoliosis.

Common signs and symptoms

• Deceased growth rate
• Impaired fine motor control, including compulsive hand movements
• Impaired gross motor control and coordination
• Scoliosis and or excessive kyphosis
• Impaired communication skills
• Difficulty breathing, including holding their breath and hyperventilation
• Inappropriate behavior response including irritability and agitation
• Low motor tone
• Drooling
• Bruxism (teeth grinding)
• Difficulty sleeping