Why Do Babies With Joubert Syndrome Breathe Abnormally?

It is very common and understandably terrifying for new parents to watch their newborn with Joubert syndrome breathe rapidly and then suddenly pause. This abnormal breathing pattern—characterized by alternating episodes of fast breathing and paused breathing—is actually a neurological issue, not a problem with your baby’s lungs ^[1][2][3]. Joubert syndrome affects how the brainstem develops. Since the brainstem controls automatic functions like breathing, the signals telling the lungs what to do can sometimes be irregular ^[4][5][6].

The Brain Connection

In Joubert syndrome, there is a specific structural difference that looks like a tooth on an MRI scan, known as the molar tooth sign ^[4][5]. This indicates that parts of the brain called the cerebellar vermis and the brainstem did not develop fully ^[4][6]. The brainstem acts as the control center for automatic body functions, including the rhythm of your breathing ^[4][6].

Because these areas are underdeveloped in Joubert syndrome, the brain sometimes sends uneven signals to the breathing muscles. This leads to hyperpnea (panting or breathing very fast) followed by apnea (holding the breath or pausing) ^[7][4]. The lungs themselves are usually healthy; they are simply following the irregular instructions they receive from the brain ^[4][6].

Will My Baby Outgrow This?

For most parents, the biggest question is whether this pattern will last forever. The reassuring news is that these breathing irregularities are most prominent in the newborn phase and frequently improve or completely resolve as the infant grows ^[2][8][9]. As your baby’s brain matures, the breathing control centers often stabilize. However, because each child with Joubert syndrome is different, the severity and timeline for improvement can vary depending on the specific structural changes involved ^[10][11].

Keeping Your Baby Safe

While waiting for these episodes to improve, your medical team will help you keep your baby safe through a multidisciplinary management approach ^[12]. This may involve:

• Monitoring Devices: Your doctor will likely prescribe a home apnea monitor or a pulse oximeter ^[12]. These devices alert you if your baby stops breathing for too long or if their oxygen levels drop.
• Sleep Studies: A sleep study (polysomnography) might be recommended to measure the length and frequency of the breathing pauses, particularly during sleep ^[9][6].
• Active Breathing Support: Some infants with Joubert syndrome experience severe neonatal respiratory distress and may temporarily require active respiratory support—such as supplemental oxygen, CPAP (continuous positive airway pressure), or mechanical ventilation—before their breathing stabilizes ^[13][14].
• Observation and Action Plans: It is critical to work with your doctor to create an “Apnea Action Plan.” This includes knowing the concrete signs of an emergency (such as your baby’s lips turning blue or becoming unusually limp) and learning exactly how to safely intervene. This often involves gentle tactile stimulation to remind the brain to breathe, and doctors strongly recommend parents take an infant CPR class so they know what to do if breathing does not immediately resume.