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PURA-related neurodevelopmental disorders (PURA-NDDs) include PURA syndrome, caused by a heterozygous pathogenic variant in PURA, and a broader 5q31.3 deletion syndrome when the deletion includes PURA and neighboring genes. Neonatal hypotonia, breathing and feeding difficulty, hypothermia, excessive sleepiness, developmental differences, seizures or nonepileptic movements, and vision concerns occur in varying combinations. The substantially revised 2026 GeneReviews chapter is the current comprehensive source.
Urgent and procedure-related safety
In a newborn or infant, apnea, shallow or slow breathing, blue or gray color, marked difficulty waking, low body temperature, weak feeding, or repeated choking requires urgent clinical assessment. Central and obstructive apnea may recur beyond the neonatal period; each person needs a respiratory and sleep plan based on observed physiology.
Seek urgent help for a first or prolonged seizure, repeated seizures without recovery, breathing difficulty, aspiration concern, severe dehydration, or a sudden change in alertness, tone, or movement. Dystonia, dyskinesia, startle, and unusual eye movements may resemble seizures, so video and video-EEG can help clinicians distinguish events; uncertainty should not delay emergency care when breathing or responsiveness is impaired.
Before sedation, surgery, or a care transition, share the person's apnea and ventilation history, airway and swallowing plan, temperature regulation, seizures and nonepileptic events, medicines, positioning, and communication access. New distress or behavior change warrants review for pain, reflux, constipation, hip or spine problems, infection, sleep disruption, seizures, and communication barriers.
Quick reference
| Topic | Condition-specific guidance |
|---|---|
| Included diagnoses | PURA syndrome and 5q31.3 deletion syndrome involving PURA |
| Cause | Reduced PURA function; most reported changes are new in the affected person, with rare inherited or mosaic cases |
| Early safety | Hypoventilation or apnea, hypothermia, hypersomnolence, hypotonia, and feeding difficulty |
| Neurology | Epilepsy and nonepileptic movements both occur; event characterization matters |
| Communication | Speech may be absent or limited, but ability varies and understanding may exceed expressive output |
| AAC | Supported early and across life, with multimodal language and individualized sensory and motor access |
Recognition and diagnosis
Possible early findings include generalized hypotonia, respiratory insufficiency, central or obstructive apnea, hypothermia, hypersomnolence, feeding difficulty or reflux, excessive hiccups, exaggerated startle, abnormal eye movements, and seizures. Later needs may include developmental and motor delay, speech and language disorder, epilepsy, dystonia or dyskinesia, vision impairment, hip dysplasia, scoliosis, low bone density, and less commonly cardiac, renal, genitourinary, or endocrine findings.
PURA syndrome is established by a pathogenic or likely pathogenic PURA variant; 5q31.3 deletion syndrome is established by a deletion encompassing PURA. A variant of uncertain significance does not establish or exclude the diagnosis. Exome or genome sequencing, often with parental samples, can identify intragenic variants, while chromosomal microarray assesses copy-number changes. The distinction matters because a larger deletion may involve additional genes.
Most cases are de novo, but parental or postzygotic mosaicism and rare inherited variants are reported. Parental testing and genetics counseling should therefore inform recurrence estimates rather than assuming zero recurrence or a uniform outcome.
Coordinated care
Care may involve genetics, neurology, pulmonology and sleep medicine, gastroenterology and nutrition, rehabilitation, orthopedics, ophthalmology, cardiology or renal and endocrine services when indicated, physical and occupational therapy, and speech-language pathology. Review should address breathing and sleep, seizure and nonepileptic events, feeding and growth, reflux and constipation, vision, tone and movement, hip and spine health, bone health, pain, development, communication, and participation.
Brain MRI findings are often nonspecific. EEG or video-EEG is useful when events may be epileptic; treatment should follow the identified seizure type and the person's response rather than the syndrome label alone.
Communication and learning
Many reported individuals are nonspeaking, while some develop speech with dysarthria, motor-planning, phonologic, receptive, or expressive language differences. No spoken response should not be interpreted as no understanding. Assessment should include hearing, vision, receptive and expressive language, speech and motor planning, literacy, gesture, social interaction, movement, and access across settings.
Communication support should provide reliable ways to gain attention, make choices, refuse, consent, report pain or breathing difficulty, ask for help, build relationships, and participate in education and community life. Address the person directly, allow response time, and recognize consistent movements, facial expressions, and vocalizations as potential communication while developing more robust options.
Feeding and swallowing
Hypotonia, respiratory instability, hypersomnolence, reflux, reduced coordination, sensory factors, and fatigue can affect feeding and swallowing. Concerning signs include coughing or choking, wet or changed voice, congestion during meals, recurrent chest illness, long feeds, distress, poor intake, or growth and hydration concerns. Aspiration can occur without an obvious cough.
Assessment should integrate respiratory status, alertness, posture, oral movement and sensation, endurance, gastrointestinal symptoms, nutrition, and preferences. Instrumental swallowing assessment may be indicated when physiology or aspiration risk remains unclear. Pacing, positioning, texture, respiratory support, reflux treatment, and oral or tube-feeding decisions require individualized, shared planning.
AAC and access planning
AAC should be supported early and throughout life when speech does not meet communication needs. There are no cognitive, motor, behavioral, or age prerequisites, and AAC does not prevent speech development. A multimodal plan may combine vocalization, facial expression, gesture, sign, objects, pictures, writing, partner strategies, and speech-generating technology.
Feature matching should assess language and literacy, vision and eye movements, hearing, tone, hand control, posture, fatigue, alertness, seizures, respiratory equipment, and environments. Touch, adapted direct selection, switches, eye tracking, partner-assisted scanning, and other methods require individual trials; eye-movement or vision differences may limit gaze access. Provide robust vocabulary, partner training, and a portable low-tech backup. See the AAC assessment and acquisition guide and ASHA AAC Practice Portal.
Participation and prognosis
Education and adult services should use the person's demonstrated strengths, sensory access, communication, health, movement, and goals. Supports may include accessible language, adapted positioning and task access, rest, communication partners, and explicit respiratory, temperature, feeding, and seizure plans.
PURA-NDDs have substantial variability, and the molecular class alone does not define an individual's communication, mobility, health, relationships, or quality of life. Reassessment is appropriate after a respiratory, seizure, feeding, movement, vision, communication, or life-context change.