Archive for neurology
Talking about a child with special needs: Tips from a mom
Our two girls, Lily (age 8) and Elise (age 6), were both diagnosed with SYNGAP1 syndrome last year. At the time there were only 250 known cases of SYNGAP1 in the world. Yes, that means our girls are 2 out of 250. It is extremely rare, and even more rare to have two children with a de ... Read More about Talking about a child with special needs: Tips from a mom
Second opinion gives Charlotte a second chance
After struggling to conceive their second child, Jennifer and Keith Bent were thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April of 2016. Jennifer felt the baby’s first kicks on Nov. 23, 2015. The next day, she was scheduled for an anatomy ... Read More about Second opinion gives Charlotte a second chance
Pediatric stroke: Do you believe these three myths?
Think fast: How much do you know about pediatric stroke? If you’re like many clinicians, you may not even realize that kids can have strokes. Yet knowing the signs of stroke in children, as well as when to refer, is crucial for primary care providers as well as specialists. Here, Miya Bernson-Leung, MD, EdM, a ... Read More about Pediatric stroke: Do you believe these three myths?
Pupil dilation and heart rate, analyzed by AI, may offer early autism diagnosis
Autism and other neurodevelopmental disorders often aren’t diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective. But new research this week in PNAS suggests that two simple, quantifiable measures — spontaneous fluctuations in pupil dilation or heart rate — could enable much earlier diagnosis of ... Read More about Pupil dilation and heart rate, analyzed by AI, may offer early autism diagnosis
Panel urges new genetic test for neurodevelopmental disorders
An international group of doctors and scientists, led by Boston Children’s Hospital, is urging the medical community to embrace — and health insurers to pay for — a new genetic technology as a first-line test for autism and other disorders affecting the development of the brain and nervous system. In a paper published last week ... Read More about Panel urges new genetic test for neurodevelopmental disorders
New genetic test yields answer after family’s 10-year search
Kate Cole knew her daughter Lilly was different almost from the moment of birth. She was “a floppy baby,” lacking the strength and muscle tone her older sister had. She had trouble eating and was slow to gain weight. When she started on solid food, she often choked on it. She never really crawled and ... Read More about New genetic test yields answer after family’s 10-year search
When even experts can’t figure you out: CNS-restricted HLH
At first it seemed like motion sickness when 5-year-old Emily threw up after spinning around outside, or during car rides. No one thought much of it. But gradually, she also developed headaches and stomachaches. Her walking and balance started to falter. She became lethargic, and complained about something in her eye. Her face took on ... Read More about When even experts can’t figure you out: CNS-restricted HLH
Jillian’s story: Finding care, support, then a diagnosis
Eighteen-year-old Jillian Allair is funny, independent, sarcastic, and the charmer of the family. She loves music, especially top 40, and little kids, with a soft spot for those with medical challenges. Jillian knows a thing or two about medical challenges herself — she’s been a patient at Boston Children’s Hospital since she was 8 weeks ... Read More about Jillian’s story: Finding care, support, then a diagnosis
Discoveries promise new strides for spinal cord injury patients
When neurobiologist Clifford Woolf, MB, BCh, PhD, began investigating potential treatments for spinal cord injury more than 30 years ago at University College London, he had mixed feelings about accepting funding for the research. “To be honest, the prospect that something could realistically make an impact on spinal cord injury in my lifetime seemed like ... Read More about Discoveries promise new strides for spinal cord injury patients
Synapse ‘protection’ signal found; helps to refine brain circuits
The developing brain is constantly forming new connections, or synapses, between nerve cells. Many connections are eventually lost, while others are strengthened. In 2012, Beth Stevens, PhD and her lab at Boston Children’s Hospital showed that microglia, immune cells that live in the brain, prune back unwanted synapses by engulfing or “eating” them. They also ... Read More about Synapse ‘protection’ signal found; helps to refine brain circuits