Growth Delays: A Guide to Rare Diseases in Children

Failure to thrive?

Hello Dr.
Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm.
She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consulted a neurologist who diagnosed her with microcephaly and hypotonia.
An MRI showed poor myelination of the cerebral white matter, but she is not growing well; her growth curve has been below the 3rd percentile since six months of age, and her appetite is poor.
The newborn screening did not show any abnormalities.
I would like to seek your expert opinion on whether further metabolic testing and rare disease screening are necessary.
We are very concerned and afraid of missing any possibilities.
We hope you can provide us with some recommendations.
Thank you.

A-Juan, 30~39 year old female. Ask Date: 2006/03/25

Dr. Hou Jiawei reply Rare Disease

At 18 months of age, the child's growth parameters show a weight of 7.7 kg, height of 73 cm, and head circumference of 42 cm, indicating growth retardation and microcephaly.
Additionally, there are concerns regarding delayed motor and language development, poor appetite, and gastrointestinal dysfunction.
It is recommended to conduct second-generation newborn screening and further genetic, metabolic, and endocrine evaluations, which may be beneficial.

Reply Date: 2006/03/25

More Info

Understanding growth delays in children, particularly in the context of rare diseases, is a critical area of concern for parents and healthcare providers alike. Your daughter’s situation, characterized by developmental delays, low weight, and small head circumference, raises important questions regarding her health and potential underlying conditions.

Firstly, it’s essential to recognize that growth delays can stem from a variety of factors, including genetic disorders, metabolic issues, and environmental influences. In your daughter’s case, the diagnosis of microcephaly (small head size) and poor myelination of the brain’s white matter, as indicated by the MRI, suggests that there may be neurological factors at play. These conditions can affect cognitive and motor development, leading to challenges such as not being able to crawl or walk at her age.

Given that your daughter’s growth curve has consistently fallen below the 3rd percentile since six months, it is crucial to conduct further evaluations. While newborn screening tests may not have shown any abnormalities, it is possible that metabolic disorders or rare genetic conditions could still be present. Conditions such as phenylketonuria (PKU), congenital hypothyroidism, or other metabolic syndromes can sometimes be missed in initial screenings, especially if they are atypical or present with subtle symptoms.

To address your concerns, I recommend the following steps:
1. Consult a Pediatric Geneticist: A geneticist can provide a comprehensive evaluation and may recommend genetic testing to identify any chromosomal abnormalities or specific genetic syndromes that could explain her symptoms. This is particularly important given her developmental delays and growth issues.

2. Metabolic Testing: A pediatrician or a metabolic specialist can conduct tests to evaluate her metabolic function. This may include blood tests to check for enzyme deficiencies or other metabolic disorders that could be contributing to her growth delays.

3. Neurological Assessment: Since there are indications of neurological issues, a follow-up with a pediatric neurologist is advisable. They can assess her motor skills, muscle tone, and overall neurological function, and may recommend therapies to support her development.

4. Early Intervention Services: Regardless of the diagnosis, enrolling your daughter in early intervention programs can be beneficial. These programs provide therapies tailored to children with developmental delays, including physical therapy, occupational therapy, and speech therapy, which can help improve her motor skills and communication abilities.

5. Regular Monitoring: Keep a close watch on her growth parameters (weight, height, and head circumference) and developmental milestones. Regular check-ups with her pediatrician will help track her progress and make timely interventions if necessary.

6. Nutritional Support: Given her poor appetite and low weight, consulting a pediatric nutritionist may also be helpful. They can provide strategies to enhance her caloric intake and ensure she receives adequate nutrition for growth and development.

7. Support Groups and Resources: Connecting with support groups for parents of children with similar challenges can provide emotional support and practical advice. Organizations focused on rare diseases may also offer resources and information on specialists and treatment options.

In conclusion, while the path ahead may seem daunting, early and proactive measures can significantly impact your daughter’s development and quality of life. By pursuing further evaluations and interventions, you can help ensure that she receives the support she needs to thrive. Remember, you are not alone in this journey, and there are many resources available to assist you and your family.

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