Deep brain stimulation in a young child with GNAO1 mutation – Feasible and helpful

Abstract

Background: GNAO1 is an emerging disorder characterized with hypotonia, developmental delay, epilepsy, and movement disorder, which can be potentially life threatening during acute exacerbation. In the USA, deep brain stimulation (DBS) has been licensed for treating children with chronic, treatment-resistant primary dystonia, who are 7 years old or older. Case Description: A 4-year-old girl diagnosed to have GNAO1-related dyskinesia and severe global developmental delay. She had severe dyskinesia precipitated by intercurrent infection, requiring prolonged intensive care for heavy sedation and related complications. Her dyskinesia improved dramatically after DBS implantation. Technical difficulties and precautions of DBS in preschool children were discussed. Conclusion: DBS should be considered early in the treatment of drug-resistant movement disorders in young children with GNAO1, especially after dyskinetic crisis, as they tend to recur. Presurgical counseling to parents and close monitoring of complications is also important in the process.

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

“…The data extracted from the literature review are presented in Supplementary Data . It is important to reference the various terms used in the literature to describe this movement disorder phenomenon: continuous, generalized involuntary movements ( 3 ), exacerbation of dyskinesia ( 18 , 19 ), acute exacerbation ( 9 , 20 ), episodes of dyskinetic movement ( 8 , 21 ), severe episodes of paroxysmal choreoathetosis ( 12 ), worsening of extrapyramidal symptomatology ( 22 ), dyskinetic episodes ( 13 ), paroxysmal episodes ( 13 ), chorea episodes ( 23 ), movement disorder fluctuations ( 24 , 25 ), recurrent episodes of hyperkinesia ( 26 ), intermittent hyperkinesia ( 27 ), episodic deterioration of the movement disorders ( 28 ), worsening of hyperkinetic movement ( 29 ), hyperkinetic crisis ( 26 , 30 ), dyskinetic crisis ( 2 ), dystonic-dyskinetic movements ( 31 ), and spells ( 6 ). In its most severe manifestation, this motor phenomenon has been referred to as dyskinetic status ( 13 , 24 , 32 ), hyperkinetic state ( 26 ), status dystonicus ( 10 , 33 , 34 ), dystonic storm ( 4 , 5 ), intractable dystonia ( 35 ), or a movement disorder emergency ( 13 ).…”

“…The selection of drugs by the experts did not include general anesthetics, paralytics, opioids, or other medications described in the literature, such as dexmedetomidine ( 5 , 6 ), propofol ( 6 , 22 , 28 , 29 , 31 ), pentobarbital ( 6 ), thiopental ( 31 ), phenobarbital ( 6 , 13 , 22 , 23 , 28 , 30 , 38 ), phenytoin ( 13 ), ketamine ( 5 , 8 ), vecuronium ( 6 ), dantrolene ( 3 ), tiapride ( 22 , 23 , 38 ), triclofos sodium ( 3 ), morphine ( 4 ), hydromorphone ( 4 ), fentanyl ( 6 , 11 , 28 , 29 ), which are commonly used in intensive care settings. Additionally, drugs used anecdotally in some reported cases, such as trazodone ( 6 ), biperiden ( 8 ), chlorpromazine ( 8 ), bethanechol ( 6 ), tizanidine ( 30 , 39 ), metamizole ( 8 ), acetazolamide ( 8 , 11 ), propranolol ( 8 ), nitrazepam ( 24 ), cannabis ( 30 ), methylphenidate ( 20 ), amantadine ( 20 ), pramipexol ( 18 ), and benserazide ( 24 ), were not included.…”

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“…The data extracted from the literature review are presented in Supplementary Data. It is important to reference the various terms used in the literature to describe this movement disorder phenomenon: continuous, generalized involuntary movements (3), exacerbation of dyskinesia (18, 19), acute exacerbation (9,20), episodes of dyskinetic movement (8,21), severe episodes of paroxysmal choreoathetosis (12), worsening of extrapyramidal symptomatology (22), dyskinetic episodes (13), paroxysmal episodes (13), chorea episodes (23), movement disorder fluctuations (24, 25), recurrent episodes of hyperkinesia (26), intermittent hyperkinesia (27), episodic deterioration of the movement disorders (28), worsening of hyperkinetic movement (29), hyperkinetic crisis (26,30), dyskinetic crisis (2), dystonic-dyskinetic movements (31), and spells (6). In its most severe manifestation, this motor phenomenon has been referred to as dyskinetic status (13,24,32), hyperkinetic state (26), status dystonicus (10,33,34), dystonic storm (4,5), intractable dystonia (35), or a movement disorder emergency (13).…”

“…The selection of drugs by the experts did not include general anesthetics, paralytics, opioids, or other medications described in the literature, such as dexmedetomidine (5,6), propofol (6,22,28,29,31), pentobarbital (6), thiopental (31), phenobarbital (6,13,22,23,28,30,38), phenytoin (13), ketamine (5,8), vecuronium (6), dantrolene (3), tiapride (22,23,38), triclofos sodium (3), morphine (4), hydromorphone (4), fentanyl (6,11,28,29), which are commonly used in intensive care settings. Additionally, drugs used anecdotally in some reported cases, such as trazodone (6), biperiden (8), chlorpromazine (8), bethanechol (6), tizanidine (30,39), metamizole (8), acetazolamide (8,11), propranolol (8), nitrazepam (24), cannabis (30), methylphenidate (20), amantadine (20), pramipexol (18), and benserazide (24), were not included.…”

Data_Sheet_1.docx

“…The data extracted from the literature review are presented in Supplementary Data. It is important to reference the various terms used in the literature to describe this movement disorder phenomenon: continuous, generalized involuntary movements (3), exacerbation of dyskinesia (18, 19), acute exacerbation (9,20), episodes of dyskinetic movement (8,21), severe episodes of paroxysmal choreoathetosis (12), worsening of extrapyramidal symptomatology (22), dyskinetic episodes (13), paroxysmal episodes (13), chorea episodes (23), movement disorder fluctuations (24, 25), recurrent episodes of hyperkinesia (26), intermittent hyperkinesia (27), episodic deterioration of the movement disorders (28), worsening of hyperkinetic movement (29), hyperkinetic crisis (26,30), dyskinetic crisis (2), dystonic-dyskinetic movements (31), and spells (6). In its most severe manifestation, this motor phenomenon has been referred to as dyskinetic status (13,24,32), hyperkinetic state (26), status dystonicus (10,33,34), dystonic storm (4,5), intractable dystonia (35), or a movement disorder emergency (13).…”