Julia had an appointment with her developmental pediatrician last week. Another thing that I love about her doctor? She send a complete, detailed report of the visit to me and to Julia's regular pediatrician.
Some people may wonder why I choose to post such personal, detailed things here. Mainly, it's for me own purposes. If I didn't keep track of my day to day life via this blog and the others I have had in the past, I would forget it. Seriously, time passes too fast and i don't want to forget a single significant moment.
Julia is a 30 1/2 month old girl with a history of developmental delay, hypotonia, and relative macrocephaly (aka a relatively big head for her weight and height).
Julia was last evaluated in June, at which time she had shown improvement in her developmental skills. She was observed to be an independent ambulator and was saying many single words and some phrases. Julia had an EEG which was read as abnormal and was going to be scheduled for an overnight EEG.
Julia continues to receive her primary medical care from Dr. B. Julia has been healthy without any significant illnesses. Past laboratory testing has included high resolution banding chromosome studies, specific testing for Tuberous Sclerosis, thyroid function tests, CPK, and a cranial MRI, all of which were negative.
Julia was admitted to Children's hospital for overnight EEG monitoring. The results showed " no electrographic change suggestive of seizure activity."
Julia continues to make developmental gains but continues to have developmental challenges. She is not yet able to climb up and down steps age appropriately. She has difficulty rising up and sitting down in chairs. Her muscle tone continues to be low and she does not show any resistance when her extremities are moved passively. Julia has difficulty turning knobs or handles that require pressure.
Julia continues to have some language delays. She has many words and sentences but frequently does not answer questions appropriately; she can not answer questions where a choice is given. For example if she is asked, "Do you want to play with your piano or blocks?" she will either say "yes" or "blocks or piano".
Julia has some sensory issues. She becomes upset when her hands or face are dirty. She is very finicky about the types of food she will eat; she will only eat certain foods and textures and generally resists trying new foods. She is fearful of going up or down stairs or walking on uneven surfaces. Occasional "hand flapping" has been observed. Julia can be overwhelmed in certain situations and can be excessively shy or timid.
Physical Examination: Julia's weight was 26 pounds, 8 ounces which was in the 30% for her age. Her height was 86.9 centimeters which was in the 15 % for her age. Her head circumference was 51.5 centimeters which is greater than the 97 % for her age. Palpebral fissures were slightly downslanting. Mild epicanthal folds were present. Extremities so increased range of motion with overall hypotonia. Gait was significant for some immaturity and mild unsteadiness. Julia required some assistance to rise up from a chair consistent with her history.
In summary Julia is a 30 1/2 month old girl with a history of relative macrocephaly, hypotonia and delays in some of her motor and language skills. Julia continues to present with delays in her motor skills ans well as sensory integration issues and language challenges. Julia appears to have more difficulty with abstract receptive language. She is able to follow a command but unable to respond to questions when choices are included.
It is recommended that Julia continues to receive EI services. Sensory Integration Therapy would be helpful.
It is strongly recommended that Julia transition in to an integrated preschool program when she turns three years of age. Julia should qualify for this program based on her speech-language, motor and sensory challenges.
A referral a genetics consultation will be made. Further diagnostic testing may be carried out at the discretion of the consulting geneticist.
Julia's progress will be followed over time and she will be scheduled for a follow up this summer.