We currently (Summer 2023) know of at least two dozen families around the world whose children have a mutation on KDM1A/LSD1. While there are significant differences in how the mutation affects development, there are commonalities. We’ve listed some below, but please note this is not an exhaustive or medically detailed list. Please check the “Summary of Medical Research” section for this.
1. Global Developmental Delay – most children have hypotonia/do not walk until much later than their peers. Many have delayed with fine motor skills and ongoing speech delays.
2. Midline defects – many children have needed surgical repairs including soft palate cleft repair, ptosis, C1 stenosis, tethered spinal cord, removal of tonsils/adenoids.
3. Mitochondrial disorder – a few children have been diagnosed with mito disorder.
4. Autism – some children have been diagnosed with autism.
5. Seizures – a few children experienced seizures soon after birth.
What does this mean for my child?
That’s probably the first question on every parent’s mind when they first receive the genetic report confirming a mutation on this gene. Since exome/whole genome sequencing only became available in recent years, the population of diagnosed children is young, small, and growing. While all of the children have some medical or developmental challenges, there is clearly a range of developmental paths. Of the children we know, all have been able to walk and communicate by age five. Some are in general education and grade-level at school; others might be in special education classes. Most have received some mix of physical/occupational/speech therapy.
For those children with significant speech delays, some have become AAC users (Alternative and Augmentative Communication). Some of the robust communication systems families have used with success include PODD, TouchChat Word Power 80 and ProLoQuo4Text. Most children do appear to have verbal speech as they get older.
If you are a parent reading this website, please know that there are wonderful, bright, joyful children in this patient population! You may receive prognoses or advice along the way…but realize that since there is not much known yet about his disorder, every child will have their own path and no doctor can give an accurate prognosis at this point. Feel free to reach out if you would like to join the private Facebook group where KDM1A/LSD1 families connect.