Symptoms And Causes Of Abetalipoproteinemia

Failure To Thrive

Failure to thrive is often seen in infants with abetalipoproteinemia. It is caused by inadequate nutrition that may develop as a result of the insufficient fat and vitamin absorption that characterizes this syndrome. Clinically, doctors define failure to thrive as height and weight measurements below the third or fifth percentiles. Infants and children who are struggling to thrive typically have a lack of appropriate weight gain, excessive sleepiness, delayed development of motor skills, and difficulties with learning and behavior in later childhood. They might also display a lack of vocal sounds, a lack of age-appropriate social responses such as smiling, and fatigue or irritability. For patients with abetalipoproteinemia, treatment for failure to thrive normally focuses on vitamin supplementation and adequate intake of appropriate dietary fats. Since abetalipoproteinemia causes problems with the absorption of long-chain saturated fatty acids, doctors recommend infants with this condition to be given plenty of medium-chain fatty acids to support normal growth patterns; these medium-chain fats can be carried through the bloodstream without the need for apoB-containing lipoproteins.

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Developmental Delays

Developmental delays in infants and children with abetalipoproteinemia may vary in severity. As the name suggests, developmental delays occur when a child does not reach a recognized developmental milestone at the expected time. To be classified as a developmental delay, the delay must be an ongoing delay in the child's developmental process, and it can be either major or minor in severity. Developmental delays are not diagnosed if a child is only temporarily behind in reaching milestones. Delays in development can affect fine and gross motor skills and language abilities, social skills, and cognition. Screening for developmental delays is typically performed periodically by a child's pediatrician, and pediatric neurologists and developmental specialists can also provide assessment and support. If a delay is identified, early intervention can help minimize its impact on the child's life and enable them to build skills to adapt to or work around these delays. For example, physical, occupational, and behavioral therapies may all be beneficial as forms of early intervention. School systems can provide resources and individualized education plans for children with developmental delays.

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