Marked progress in psychomotor development in a genetic disorder of CNS development

History

The child was born prematurely at 35 weeks.

From an early age a considerable lag in the development of psychomotor skills became apparent. Motor development was substantially slower than normal for the age; rolling over, crawling and later coming upright all developed late. A marked delay in speech development was also present.

Epileptic seizures occurred from the first months of life. Investigation recorded epileptiform activity.

Brain MRI showed marked congenital structural changes, including agenesis of the corpus callosum and other disturbances of brain formation.

Further genetic testing identified a heterozygous TUBB c.836A>G (p.Gln279Arg) variant. This variant was assessed as likely pathogenic and associated with a complex disorder of cortical development. The mutation was not found in the parents, consistent with it having arisen de novo.

The genetic report also noted microcephaly, marked delay in psychomotor and speech development and structural brain anomalies characteristic of this genetic disorder.

Before treatment

At the time the family came to us, the child's main problems were:

• marked delay in psychomotor development
• insufficient strength and control of movement in the limbs
• marked lag in the development of gross motor skills
• impaired ability to come upright and walk independently
• difficulty moving unaided from lying to sitting
• delayed speech development
• epileptic seizures
• reduced general motor activity
• limited active interaction with others

The main aim of the programme was to create the conditions for the greatest possible further development of the child's motor, speech, cognitive and social functions.

The programme

Given the child's age and the nature of the genetic CNS disorder, a personalised cell and neuroregenerative programme using a related-donor protocol was designed.

At the first stage peripheral blood and bone marrow were collected from one of the parents, acting as the related donor, for the subsequent preparation of the cell components of the programme.

The therapy that followed included:

• use of mesenchymal stromal cells
• therapy with regulatory T cells
• a neurally targeted cell component
• intranasal administration of neurally induced mesenchymal cells
• highly concentrated exosome therapy
• intranasal peptide support
• two sessions of neurotherapy

The exact doses and technical parameters formed part of an individual internal protocol.

Course after treatment

After the programme the parents noted marked positive change across several areas of the child's development at once.

Psychomotor development

One of the most significant results was a noticeable acceleration of psychomotor development.

The child began to acquire new skills more actively, to control body position better and to show more independence in movement.

Motor function

Increased strength in the limbs and improved control of movement were noted.

New functional abilities appeared:

• the child began to move unaided from lying to sitting
• coming upright improved considerably
• independent walking appeared and became substantially better
• movements became more assured and more purposeful

Speech

After treatment the parents also noted marked positive change in speech development.

The child began to speak better, with more verbal activity and a greater ability to use speech to interact with others.

Social interaction

The child became more active and more engaged in what was going on, interacted better with family and with others, and showed more initiative and interest in contact.

Epileptic seizures

One of the most important results for the family was a sharp reduction in the frequency of epileptic seizures.

After the programme, by the parents' observation, seizures became extremely rare and almost entirely stopped.