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Growth and development in monogenic forms of neonatal diabetes
Batoul Hammoud1, Siri Atma W Greeley
1Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, and Kovler Diabetes Center, University of Chicago, Chicago, Illinois, USA.
Insights
Neonatal diabetes mellitus (NDM) is a rare genetic disorder. This review highlights growth and neurodevelopmental challenges in infants with monogenic NDM, emphasizing the impact of insulin deficiency and gene mutations.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Neonatal diabetes mellitus (NDM) is a rare condition diagnosed in infants under six months.
- Monogenic causes account for 80-85% of NDM cases.
- Insulin deficiency in utero can lead to intrauterine growth restriction and low birth weight.
Purpose of the Study:
- To review growth and neurodevelopmental outcomes in individuals with various forms of monogenic NDM.
- To summarize current knowledge on the impact of specific genetic causes on NDM patients.
- To identify areas needing further research regarding long-term effects.
Main Methods:
- Literature review of studies on neonatal diabetes mellitus.
- Analysis of growth and neurodevelopmental data in relation to specific monogenic causes.
- Synthesis of findings on the effects of insulin deficiency and gene mutations.
Main Results:
- NDM patients frequently exhibit intrauterine growth restriction and/or low birth weight.
- Specific monogenic NDM forms are linked to neurodevelopmental and growth problems.
- Mutations in KATP channels, the most common NDM cause, can lead to neurological disability.
Conclusions:
- Monogenic NDM involves variable in utero growth restriction due to insulin deficiency.
- Many NDM forms present with neurodevelopmental disabilities linked to gene mutations affecting brain development.
- Longitudinal studies are required to fully understand adult growth outcomes.
Purpose Of Review:
Neonatal diabetes mellitus (NDM) is a rare disorder in which 80-85% of infants diagnosed under 6 months of age will be found to have an underlying monogenic cause. This review will summarize what is known about growth and neurodevelopmental difficulties among individuals with various forms of NDM.
Recent Findings:
Patients with NDM often have intrauterine growth restriction and/or low birth weight because of insulin deficiency in utero and the severity and likelihood of ongoing growth concerns after birth depends on the specific cause. A growing list of rare recessive causes of NDM are associated with neurodevelopmental and/or growth problems that can either be related to direct gene effects on brain development, or may be related to a variety of co-morbidities. The most common form of NDM results in spectrum of neurological disability due to expression of mutated KATP channels throughout the brain.
Summary:
Monogenic causes of neonatal diabetes are characterized by variable degree of restriction of growth in utero because of deficiency of insulin that depends on the specific gene cause. Many forms also include a spectrum of neurodevelopmental disability because of mutation-related effects on brain development. Longer term study is needed to clarify longitudinal effects on growth into adulthood.
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